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+ Genes 468

Genes:
AATK, ABCA10, ABCA7, ABCB5, ABHD17A, ABI1, AC079612.1, AC126614.1, ACAD10, ACADS, ACOT11, ACSL3, ACSM2A, ACSM2B, ADAMTS12, ADAMTS13, ADAMTS16, ADAMTSL2, ADCY7, AHRR, ALDH16A1, ALDH1B1, ALOX15, ALS2CL, AMACR, AMER3, AMH, ANK1, ANKRD18B, ANKRD24, ANKRD55, ANKRD9, APCDD1, APEH, APIP, APOD, ARID1A, ARID3A, ARMC5, ASPM, ATHL1, ATP6V1A, ATP8B3, ATXN1, AZU1, B4GALNT4, BAI1, BAIAP2, BAIAP3, BCAP31, BCL10, BET1L, BMP6, BRPF1, BSG, BTN1A1, BTN2A2, BTN3A1, BTN3A2, C11orf35, C12orf49, C20orf96, C2CD4C, C4A, C5orf42, C7orf60, CACNA1H, CAMSAP3, CARD6, CBWD1, CC2D1A, CCBL1, CCDC152, CCDC154, CCDC94, CCRL2, CD151, CDC34, CDH24, CDK10, CDK11A, CDK12, CELSR3, CEP192, CER1, CERK, CHRD, CHTOP, CILP2, CLTA, CMYA5, CNN2, CNTNAP3, COL4A4, COL5A3, COL6A3, COLEC12, CPOX, CSNK2B, CSRNP1, CTD-3193O13.9, CTSW, CXCR1, CYP4F12, DAXX, DBN1, DDA1, DDX6, DEAF1, DLGAP1, DNAH10, DNAH2, DNAH5, DNAH7, DNASE1L2, DOCK3, DOCK8, DPEP2, DSP, DST, DUSP22, EFCAB6, EMR3, ENOSF1, ENTPD3, ENTPD4, EPHB6, EPRS, ERCC6, ERMP1, EXOC2, EXOC3, EXOSC3, F2RL3, FAM205A, FAM214B, FAM230A, FAM8A1, FANCE, FBXO10, FBXO18, FBXO42, FBXW10, FBXW12, FEM1A, FGFR3, FLNB, FOXD4, FREM1, FRMPD1, FYCO1, GADD45B, GAGE12H, GAL3ST4, GARNL3, GBF1, GCM2, GGA3, GGN, GGT5, GHR, GJA3, GLDC, GLUD1, GNE, GON4L, GPR108, GPR78, GPX3, GPX8, GRHPR, GRIN3B, GRM5, GUF1, GULP1, HAPLN2, HCG27, HCN2, HDGFRP2, HEG1, HIST1H1C, HIST1H2BI, HIST1H3C, HIVEP1, HMCN1, HMGCS1, HNF1B, HOOK2, HUS1B, IER3, IFITM2, IFNA10, IFNA4, IGSF10, IGSF21, IL33, IL6ST, IL7R, INSL4, IQGAP1, IRF2BP1, IRF9, ISM1, ITFG2, ITIH3, JAK2, JARID2, KANK1, KCNH3, KCNK6, KCNV2, KDM4C, KIAA0020, KIAA1161, KIAA1432, KIAA2026, KIF13A, KIF18B, KIF3B, KIT, KLHDC2, KLRF1, KRTAP10-5, LAMA1, LAMA3, LAMB2, LILRA4, LILRA5, LILRB5, LRIF1, LRP1, LRRC56, MADCAM1, MAFA, MAP3K1, MAP3K5, MBD3L3, MCAM, MED16, MED26, MEGF9, MELK, METTL4, MICALL2, MISP, MKNK2, MMP3, MOCS1, MPND, MPPE1, MTRR, MUC17, MUC2, MUC6, MVD, MXRA8, MYBPC3, MYLK4, MYOM1, MYT1, NADK2, NAGPA, NCOR2, NEDD9, NF1, NIM1K, NKD2, NLRC5, NLRP6, NOC4L, NOMO1, NOP56, NOTCH4, NR1H3, NR1I3, NR4A1, NSUN2, NTMT1, NUP133, NUP153, NUP155, NUP85, OAZ1, ODF3, OLFM2, OR1C1, OR2H2, OR2S2, OR2T8, OR4F5, OR4K1, OR52N2, OR8B8, ORMDL2, OSBP2, PACS1, PAIP1, PAK6, PALMD, PAN2, PAX5, PCDH12, PCDHGA10, PCNXL2, PDE6C, PDZD2, PER2, PEX1, PGA5, PKN2, PKP3, PLEKHA6, PLEKHG2, PLEKHH3, PLEKHM2, PLIN4, PLK5, PMAIP1, PNPLA2, POLR1E, POLR2A, POLR2L, POLR3D, POLRMT, PPP1R3G, PPRC1, PRODH, PROM2, PRPF31, PRR25, PRSS3, PRSS57, PSMD13, PSME4, PTPRD, PTPRS, PVR, PZP, RAB44, RANBP6, RARA, RASGRP4, RBM22, RECK, REXO1, RIN1, RLN1, RNF168, RNF212, RNH1, ROPN1L, RP11-683L23.1, RP11-998D10.1, RPS15, RREB1, RYR2, RYR3, SCGB1C1, SEH1L, SELE, SEMA4F, SEMA5A, SEMA6B, SH3YL1, SHC2, SIGIRR, SIRT5, SLC10A4, SLC11A1, SLC15A2, SLC17A4, SLC1A1, SLC34A2, SLC39A7, SLC5A10, SLC6A18, SLC6A19, SLC6A5, SLC9A3, SMARCA2, SMCHD1, SMCO2, SORCS2, SPATA31A1, SPEF2, SPNS1, SRCAP, ST3GAL5, STAP2, SULT1A2, SYNE2, SYVN1, TACC3, TAOK2, TAPBP, TAS1R2, TAS2R13, TAS2R14, TCAIM, TCEB2, TCF12, TDRD6, TEK, TESK1, TFAP2A, TFRC, THOC1, TJP3, TLN1, TMEM220, TMEM259, TMEM261, TMEM63C, TMEM80, TMPRSS9, TNK1, TNR, TNXB, TPGS1, TPPP, TRBV20OR9-2, TRIM16L, TRIM31, TRIM49B, TRIM6, TRIOBP, TSPAN4, TSSK1B, TTC14, TTN, TXNDC2, UBAP1L, UBAP2, UBE2I, UNC13B, USP29, USP6, VPS9D1, VWA3A, VWA5A, WBP11, WDR18, WDR24, WDR87, WFS1, WHSC1L1, WIZ, WRNIP1, YES1, ZBTB5, ZC3H12D, ZDHHC11, ZDHHC11B, ZFR2, ZFYVE1, ZIC2, ZNF182, ZNF276, ZNF518B, ZNF519, ZNF556, ZNF558, ZNF587B, ZNF626, ZNF691, ZNF804A, ZNF880, ZNRF4,

+ Genes associated with diseases 107

Genes at Omim

ABCA7, ACADS, ADAMTS13, ADAMTSL2, AMACR, AMH, ANK1, APCDD1, ARID1A, ARMC5, ASPM, ATP6V1A, ATXN1, BCAP31, BCL10, BRPF1, BSG, C4A, CACNA1H, CC2D1A, CD151, CDK10, COL4A4, COL6A3, CPOX, CXCR1, DEAF1, DNAH5, DOCK3, DOCK8, DSP, DST, EPRS, ERCC6, EXOSC3, FANCE, FGFR3, FLNB, FREM1, FYCO1, GCM2, GHR, GJA3, GLDC, GLUD1, GNE, GRHPR, GUF1, HMCN1, HNF1B, IL7R, JAK2, KANK1, KCNV2, KIT, LAMA1, LAMA3, LAMB2, LRP1, LRRC56, MAFA, MAP3K1, MMP3, MOCS1, MTRR, MVD, MYBPC3, NADK2, NF1, NOP56, NSUN2, NUP133, NUP155, NUP85, PACS1, PAX5, PCDH12, PDE6C, PER2, PEX1, PLEKHG2, PNPLA2, PRODH, PRPF31, RARA, RNF168, RNF212, RYR2, SLC1A1, SLC34A2, SLC6A19, SLC6A5, SLC9A3, SMARCA2, SMCHD1, SRCAP, SYNE2, TAPBP, TCF12, TEK, TFAP2A, TFRC, TNXB, TRIOBP, TTN, WFS1, ZIC2,
ABCA7 {Alzheimer disease 9, susceptibility to}, 608907 (3)
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3)
ADAMTS13 Thrombotic thrombocytopenic purpura, familial, 274150 (3)
ADAMTSL2 Geleophysic dysplasia 1, 231050 (3)
AMACR Alpha-methylacyl-CoA racemase deficiency, 614307 (3)
Bile acid synthesis defect, congenital, 4, 214950 (3)
AMH Persistent Mullerian duct syndrome, type I, 261550 (3)
ANK1 Spherocytosis, type 1, 182900 (3)
APCDD1 Hypotrichosis 1, 605389 (3)
ARID1A Coffin-Siris syndrome 2, 614607 (3)
ARMC5 ACTH-independent macronodular adrenal hyperplasia 2, 615954 (3)
ASPM Microcephaly 5, primary, autosomal recessive, 608716 (3)
ATP6V1A Cutis laxa, autosomal recessive, type IID, 617403 (3)
Epileptic encephalopathy, infantile or early childhood, 3, 618012 (3)
ATXN1 Spinocerebellar ataxia 1, 164400 (3)
BCAP31 Deafness, dystonia, and cerebral hypomyelination, 300475 (3)
BCL10 {Lymphoma, follicular, somatic}, 605027 (3)
{Male germ cell tumor, somatic}, 273300 (3)
{Mesothelioma, somatic}, 156240 (3)
Lymphoma, MALT, somatic, 137245 (3)
{Sezary syndrome, somatic} (3)
?Immunodeficiency 37, 616098 (3)
BRPF1 Intellectual developmental disorder with dysmorphic facies and ptosis, 617333 (3)
BSG [Blood group, OK], 111380 (3)
C4A C4a deficiency, 614380 (3)
[Blood group, Rodgers], 614374 (3)
CACNA1H Hyperaldosteronism, familial, type IV, 617027 (3)
{Epilepsy, childhood absence, susceptibility to, 6}, 611942 (3)
{Epilepsy, idiopathic generalized, susceptibility to, 6}, 611942 (3)
CC2D1A Mental retardation, autosomal recessive 3, 608443 (3)
CD151 Nephropathy with pretibial epidermolysis bullosa and deafness, 609057 (3)
[Blood group, Raph], 179620 (3)
CDK10 Al Kaissi syndrome, 617694 (3)
COL4A4 Alport syndrome 2, autosomal recessive, 203780 (3)
Hematuria, familial benign, 141200 (3)
COL6A3 Bethlem myopathy 1, 158810 (3)
Dystonia 27, 616411 (3)
Ullrich congenital muscular dystrophy 1, 254090 (3)
CPOX Harderoporphyria, 121300 (3)
Coproporphyria, 121300 (3)
CXCR1 {AIDS, slow progression to}, 609423 (3)
DEAF1 ?Dyskinesia, seizures, and intellectual developmental disorder, 617171 (3)
Mental retardation, autosomal dominant 24, 615828 (3)
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
DOCK3 Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, 618292 (3)
DOCK8 Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3)
DSP Arrhythmogenic right ventricular dysplasia 8, 607450 (3)
Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3)
Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 (3)
Epidermolysis bullosa, lethal acantholytic, 609638 (3)
Keratosis palmoplantaris striata II, 612908 (3)
Skin fragility-woolly hair syndrome, 607655 (3)
DST Epidermolysis bullosa simplex, autosomal recessive 2, 615425 (3)
?Neuropathy, hereditary sensory and autonomic, type VI, 614653 (3)
EPRS Leukodystrophy, hypomyelinating, 15, 617951 (3)
ERCC6 Cerebrooculofacioskeletal syndrome 1, 214150 (3)
{Lung cancer, susceptibility to}, 211980 (3)
{Macular degeneration, age-related, susceptibility to, 5}, 613761 (3)
Cockayne syndrome, type B, 133540 (3)
De Sanctis-Cacchione syndrome, 278800 (3)
Premature ovarian failure 11, 616946 (3)
UV-sensitive syndrome 1, 600630 (3)
EXOSC3 Pontocerebellar hypoplasia, type 1B, 614678 (3)
FANCE Fanconi anemia, complementation group E, 600901 (3)
FGFR3 Bladder cancer, somatic, 109800 (3)
CATSHL syndrome, 610474 (3)
Cervical cancer, somatic, 603956 (3)
Hypochondroplasia, 146000 (3)
Achondroplasia, 100800 (3)
Colorectal cancer, somatic, 114500 (3)
Crouzon syndrome with acanthosis nigricans, 612247 (3)
LADD syndrome, 149730 (3)
Muenke syndrome, 602849 (3)
Nevus, epidermal, somatic, 162900 (3)
SADDAN, 616482 (3)
Spermatocytic seminoma, somatic, 273300 (3)
Thanatophoric dysplasia, type I, 187600 (3)
Thanatophoric dysplasia, type II, 187601 (3)
FLNB Atelosteogenesis, type I, 108720 (3)
Atelosteogenesis, type III, 108721 (3)
Boomerang dysplasia, 112310 (3)
Larsen syndrome, 150250 (3)
Spondylocarpotarsal synostosis syndrome, 272460 (3)
FREM1 Bifid nose with or without anorectal and renal anomalies, 608980 (3)
Manitoba oculotrichoanal syndrome, 248450 (3)
Trigonocephaly 2, 614485 (3)
FYCO1 Cataract 18, autosomal recessive, 610019 (3)
GCM2 Hyperparathyroidism 4, 617343 (3)
Hypoparathyroidism, familial isolated, 146200 (3)
GHR {Hypercholesterolemia, familial, modifier of}, 143890 (3)
Growth hormone insensitivity, partial, 604271 (3)
Increased responsiveness to growth hormone, 604271 (3)
Laron dwarfism, 262500 (3)
GJA3 Cataract 14, multiple types, 601885 (3)
GLDC Glycine encephalopathy, 605899 (3)
GLUD1 Hyperinsulinism-hyperammonemia syndrome, 606762 (3)
GNE Nonaka myopathy, 605820 (3)
Sialuria, 269921 (3)
GRHPR Hyperoxaluria, primary, type II, 260000 (3)
GUF1 ?Epileptic encephalopathy, early infantile, 40, 617065 (3)
HMCN1 {Macular degeneration, age-related, 1}, 603075 (3)
HNF1B Diabetes mellitus, noninsulin-dependent, 125853 (3)
{Renal cell carcinoma}, 144700 (3)
Renal cysts and diabetes syndrome, 137920 (3)
IL7R Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3)
JAK2 Leukemia, acute myeloid, somatic, 601626 (3)
Erythrocytosis, somatic, 133100 (3)
Myelofibrosis, somatic, 254450 (3)
Polycythemia vera, somatic, 263300 (3)
Thrombocythemia 3, 614521 (3)
{Budd-Chiari syndrome, somatic}, 600880 (3)
KANK1 Cerebral palsy, spastic quadriplegic, 2, 612900 (3)
KCNV2 Retinal cone dystrophy 3B, 610356 (3)
KIT Gastrointestinal stromal tumor, familial, 606764 (3)
Germ cell tumors, somatic, 273300 (3)
Leukemia, acute myeloid, 601626 (3)
Mastocytosis, cutaneous, 154800 (3)
Mastocytosis, systemic, somatic, 154800 (3)
Piebaldism, 172800 (3)
LAMA1 Poretti-Boltshauser syndrome, 615960 (3)
LAMA3 Epidermolysis bullosa, generalized atrophic benign, 226650 (3)
Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
Laryngoonychocutaneous syndrome, 245660 (3)
LAMB2 Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199 (3)
Pierson syndrome, 609049 (3)
LRP1 ?Keratosis pilaris atrophicans, 604093 (3)
LRRC56 Ciliary dyskinesia, primary, 39, 618254 (3)
MAFA Insulinomatosis and diabetes mellitus, 147630 (3)
MAP3K1 46XY sex reversal 6, 613762 (3)
MMP3 {Coronary heart disease, susceptibility to, 6}, 614466 (3)
MOCS1 Molybdenum cofactor deficiency A, 252150 (3)
MTRR Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3)
{Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3)
MVD Porokeratosis 7, multiple types, 614714 (3)
MYBPC3 Cardiomyopathy, dilated, 1MM, 615396 (3)
Cardiomyopathy, hypertrophic, 4, 115197 (3)
Left ventricular noncompaction 10, 615396 (3)
NADK2 ?2,4-dienoyl-CoA reductase deficiency, 616034 (3)
NF1 Leukemia, juvenile myelomonocytic, 607785 (3)
Neurofibromatosis, familial spinal, 162210 (3)
Neurofibromatosis, type 1, 162200 (3)
Neurofibromatosis-Noonan syndrome, 601321 (3)
Watson syndrome, 193520 (3)
NOP56 Spinocerebellar ataxia 36, 614153 (3)
NSUN2 Mental retardation, autosomal recessive 5, 611091 (3)
NUP133 ?Galloway-Mowat syndrome 8, 618349 (3)
Nephrotic syndrome, type 18, 618177 (3)
NUP155 ?Atrial fibrillation 15, 615770 (3)
NUP85 Nephrotic syndrome, type 17, 618176 (3)
PACS1 Schuurs-Hoeijmakers syndrome, 615009 (3)
PAX5 {Leukemia, acute lymphoblastic, susceptibility to, 3}, 615545 (3)
PCDH12 Microcephaly, seizures, spasticity, and brain calcification, 251280 (3)
PDE6C Cone dystrophy 4, 613093 (3)
PER2 Advanced sleep phase syndrome, familial, 1, 604348 (3)
PEX1 Heimler syndrome 1, 234580 (3)
Peroxisome biogenesis disorder 1A (Zellweger), 214100 (3)
Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 (3)
PLEKHG2 Leukodystrophy and acquired microcephaly with or without dystonia, 616763 (3)
PNPLA2 Neutral lipid storage disease with myopathy, 610717 (3)
PRODH Hyperprolinemia, type I, 239500 (3)
{Schizophrenia, susceptibility to, 4}, 600850 (3)
PRPF31 Retinitis pigmentosa 11, 600138 (3)
RARA Leukemia, acute promyelocytic, 612376 (1)
RNF168 RIDDLE syndrome, 611943 (3)
RNF212 Recombination rate QTL 1, 612042 (3)
RYR2 Arrhythmogenic right ventricular dysplasia 2, 600996 (3)
Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772 (3)
SLC1A1 Dicarboxylic aminoaciduria, 222730 (3)
{?Schizophrenia susceptibility 18}, 615232 (3)
SLC34A2 Pulmonary alveolar microlithiasis, 265100 (3)
SLC6A19 Hartnup disorder, 234500 (3)
Hyperglycinuria, 138500 (3)
Iminoglycinuria, digenic, 242600 (3)
SLC6A5 Hyperekplexia 3, 614618 (3)
SLC9A3 Diarrhea 8, secretory sodium, congenital, 616868 (3)
SMARCA2 Nicolaides-Baraitser syndrome, 601358 (3)
SMCHD1 Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 (3)
Bosma arhinia microphthalmia syndrome, 603457 (3)
SRCAP Floating-Harbor syndrome, 136140 (3)
SYNE2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999 (3)
TAPBP Bare lymphocyte syndrome, type I, 604571 (3)
TCF12 Craniosynostosis 3, 615314 (3)
TEK Glaucoma 3, primary congenital, E, 617272 (3)
Venous malformations, multiple cutaneous and mucosal, 600195 (3)
TFAP2A Branchiooculofacial syndrome, 113620 (3)
TFRC Immunodeficiency 46, 616740 (3)
TNXB Ehlers-Danlos syndrome, classic-like, 1 606408 (3)
Vesicoureteral reflux 8, 615963 (3)
TRIOBP Deafness, autosomal recessive 28, 609823 (3)
TTN Cardiomyopathy, dilated, 1G, 604145 (3)
Cardiomyopathy, familial hypertrophic, 9, 613765 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807 (3)
Myopathy, proximal, with early respiratory muscle involvement, 603689 (3)
Salih myopathy, 611705 (3)
Tibial muscular dystrophy, tardive, 600334 (3)
WFS1 Deafness, autosomal dominant 6/14/38, 600965 (3)
?Cataract 41, 116400 (3)
Wolfram syndrome 1, 222300 (3)
Wolfram-like syndrome, autosomal dominant, 614296 (3)
{Diabetes mellitus, noninsulin-dependent, association with}, 125853 (3)
ZIC2 Holoprosencephaly 5, 609637 (3)

Genes at Clinical Genomics Database

ACADS, ADAMTS13, ADAMTSL2, ALS2CL, AMACR, AMH, ANK1, APCDD1, ARID1A, ARMC5, ASPM, ATXN1, BCAP31, BCL10, BSG, C4A, CC2D1A, CD151, COL4A4, COL6A3, CPOX, DEAF1, DNAH5, DOCK8, DSP, DST, ERCC6, EXOSC3, FANCE, FGFR3, FLNB, FREM1, FYCO1, GCM2, GHR, GJA3, GLDC, GLUD1, GNE, GRHPR, HMCN1, HNF1B, IL7R, JAK2, KANK1, KCNV2, KIT, LAMA1, LAMA3, LAMB2, LRP1, MAP3K1, MOCS1, MTRR, MVD, MYBPC3, NADK2, NF1, NOP56, NUP155, PACS1, PAX5, PDE6C, PER2, PEX1, PLEKHG2, PNPLA2, PRODH, PRPF31, RNF168, RYR2, SLC1A1, SLC34A2, SLC6A19, SLC6A5, SMARCA2, SMCHD1, SRCAP, ST3GAL5, SYNE2, TAPBP, TCF12, TEK, TFAP2A, TFRC, TNXB, TRIOBP, TTN, WFS1, ZIC2,
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of
ADAMTS13 Thrombotic thrombocytopenic purpura, familial
Schulman-Upshaw syndrome
ADAMTSL2 Geleophysic dysplasia 1
ALS2CL Schizophrenia
AMACR Bile acid synthesis defect, congenital, 4
Alpha-methylacyl-CoA racemase deficiency
AMH Persistent Mullerian duct syndrome, type I
ANK1 Spherocytosis, hereditary 1
APCDD1 Hypotrichosis 1
ARID1A Mental retardation, autosomal dominant 14
Coffin-Siris syndrome 2
ARMC5 ACTH-independent macronodular adrenal hyperplasia 2
ASPM Microcephaly, primary autosomal recessive, 5
ATXN1 Spinocerebellar ataxia 1
BCAP31 Deafness, dystonia, and cerebral hypomyelination
BCL10 Immunodeficiency 37
BSG Blood group, OK
C4A Blood group, Chido/Rodgers system
CC2D1A Mental retardation, autosomal recessive 3
CD151 Raph blood group
COL4A4 Alport syndrome, autosomal recessive
COL6A3 Ullrich congenital muscular dystrophy 1
Bethlem myopathy 1
Dystonia 27
CPOX Coproporphyria
Harderoporphyria
DEAF1 Mental retardation, autosomal dominant 24
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus
DOCK8 Hyper-IgE recurrent infection syndrome, autosomal recessive
DSP Arrhythmogenic right ventricular dysplasia, familial 8
Cardiomyopathy, dilated, with wooly hair and keratoderma
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
DST Neuropathy, hereditary sensory and autonomic, type VI
ERCC6 Xeroderma Pigmentosum-Cockayne Syndrome
De Sanctis-Cacchione syndrome
Premature ovarian failure 11 (AD)
EXOSC3 Pontocerebellar hypoplasia type 1B
FANCE Fanconi anemia, complementation group E
FGFR3 Camptodactyly, tall stature, and hearing loss (CATSHL) syndrome
Crouzon syndrome with acanthosis nigricans
Lacrimoauriculodentodigital syndrome (AD)
Muenke syndrome
FLNB Larsen syndrome
Spondylocarpotarsal synostosis syndrome
Boomerang dysplasia
Atelosteogenesis, type I
Atelosteogenesis, type III
FREM1 Bifid nose with or without anorectal and renal anomalies
Trigonocephaly 2
Manitoba oculotrichoanal syndrome
Congenital diaphragmatic hernia, autosomal recessive
FYCO1 Cataract, autosomal recessive congenital 2
GCM2 Hypoparathyroidism, familial isolated
GHR Growth hormone insensitivity syndrome (Laron syndrome)
GJA3 Cataract 14, multiple types
GLDC Glycine encephalopathy
GLUD1 Hyperinsulinemic hypoglycemia, familial
Hyperammonemia-hyperinsulinism
GNE Sialuria, French type
Nonaka myopathy
Inclusion body myopathy, autosomal recessive
GRHPR Hyperoxaluria, primary, type II
HMCN1 Macular degeneration, age-related, 1
HNF1B Renal cell carcinoma, nonpapillary chromophobe
IL7R Severe combined immunodeficiency, autosomal recessive, T-cell negative, B-cell positive, NK cell positive
JAK2 Thrombocythemia 3
KANK1 Cerebral palsy, spastic quadriplegic, 2
KCNV2 Retinal cone dystrophy 3B
KIT Gastrointestinal stromal tumor
LAMA1 Poretti-Boltshauser syndrome
LAMA3 Laryngoonychocutaneous syndrome
Epidermolysis bullosa, junctional, Herlitz type
Epidermolysis bullosa, generalized atrophic benign
LAMB2 Pierson syndrome
Nephrotic syndrome, type 5, with or without ocular abnormalities
LRP1 Schizophrenia
MAP3K1 46,XY sex reversal 6
MOCS1 Molybdenum cofactor deficiency, type A
MTRR Homocystinuria-megaloblastic anemia, cobalamin E type
MVD Porokeratosis 7
MYBPC3 Cardiomyopathy, familial hypertrophic, 4
Cardiomyopathy, dilated, 1MM
Left ventricular noncompaction 10
NADK2 2,4-dienoyl-CoA reductase deficiency
NF1 Neurofibromatosis type 1, Neurofibromatosis-Noonan syndrome
Watson syndrome
NOP56 Spinocerebellar ataxia 36
NUP155 Atrial fibrillation 15
PACS1 Mental retardation, autosomal dominant 17
PAX5 Pre-B cell acute lymphoblastic leukemia
PDE6C Cone dystrophy 4
PER2 Advanced sleep phase syndrome, familial
PEX1 Heimler syndrome 1
PLEKHG2 Leukodystrophy and acquired microcephaly with or without dystonia
PNPLA2 Neutral lipid storage disease with myopathy
PRODH Hyperprolinemia, type I
PRPF31 Retinitis pigmentosa 11
RNF168 RIDDLE syndrome
RYR2 Ventricular tachycardia, catecholaminergic polymorphic, 1
Arrhythmogenic right ventricular dysplasia 2
SLC1A1 Dicarboxylic aminoaciduria
SLC34A2 Pulmonary alveolar microlithiasis
SLC6A19 Hartnup disease
SLC6A5 Hyperekplexia 3
SMARCA2 Nicolaides-Baraitser syndrome
SMCHD1 Facioscapulohumeral muscular dystrophy, type 2
SRCAP Floating-Harbor syndrome
ST3GAL5 Ganglioside GM3 synthase deficiency
SYNE2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant
TAPBP Bare lymphocyte syndrome, type I
TCF12 Craniosynostosis 3
TEK Venous malformations, multiple cutaneous and mucosal
TFAP2A Branchiooculofacial sydrome
TFRC Immunodeficiency 46
TNXB Vesicoureteral reflux 8
Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficiency
TRIOBP Deafness, autosomal recessive 28
TTN Cardiomyopathy, familial hypertrophic 9
Cardiomyopathy, dilated, 1G
WFS1 Wolfram syndrome
ZIC2 Holoprosencephaly 5

Genes at HGMD

Summary

Number of Variants: 666
Number of Genes: 468

Export to: CSV

AATK
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 17 . 79094391 467.77 A G PASS 0/1 36 SYNONYMOUS_CODING LOW SILENT None None None None None None AATK|0.00450864|86.39%

ABCA10
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 17 . 67215760 764.77 A C PASS 1/1 25 SYNONYMOUS_CODING LOW SILENT None None None None None None ABCA10|0.002179826|90.49%

ABCA7
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 19 . 1056493 1307.77 G C PASS 0/1 97 SYNONYMOUS_CODING LOW SILENT None None None None None None ABCA7|0.007770288|82.8%
View wes08-paw final 19 . 1045174 1802.77 G A PASS 1/1 59 SYNONYMOUS_CODING LOW SILENT None None None None None None ABCA7|0.007770288|82.8%

ABCB5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 7 . 20784995 295.77 C T PASS 0/1 26 SYNONYMOUS_CODING LOW SILENT None None None None None None ABCB5|0.12579132|46.5%

ABHD17A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 19 . 1880951 608.77 T C PASS 0/1 41 SYNONYMOUS_CODING LOW SILENT None None None None None None ABHD17A|0.044405191|64.37%

ABI1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 10 . 27112127 200.77 C T PASS 0/1 29 SYNONYMOUS_CODING LOW SILENT None None None None None None ABI1|0.696516769|8.59%

AC079612.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 2 . 240500603 306.77 T C PASS 0/1 32 SYNONYMOUS_CODING LOW SILENT None None None None None None None

AC126614.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 12 . 57810500 947.77 T C PASS 1/1 27 SYNONYMOUS_CODING LOW SILENT None None None None None None R3HDM2|0.54644852|13.9%

ACAD10
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 12 . 112184082 42.77 C T PASS 0/1 6 SYNONYMOUS_CODING LOW SILENT None None None None None None ACAD10|0.026374196|71.16%

ACADS
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 12 . 121177131 330.77 C T PASS 0/1 35 SYNONYMOUS_CODING LOW SILENT None None None None None None ACADS|0.070436549|57.39%

ACOT11
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 1 . 55072879 26.78 T G PASS 0/1 10 SYNONYMOUS_CODING LOW SILENT None None None None None None ACOT11|0.083532045|54.52%

ACSL3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 2 . 223773499 36.77 G T PASS 0/1 3 SYNONYMOUS_CODING LOW SILENT None None None None None None ACSL3|0.118675241|47.65%

ACSM2A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 16 . 20480985 2138.77 G A PASS 1/1 46 SYNONYMOUS_CODING LOW SILENT None None None None None None ACSM2A|0.005190474|85.6%

ACSM2B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 16 . 20554263 370.77 G A PASS 1/1 11 SYNONYMOUS_CODING LOW SILENT None None None None None None ACSM2B|0.005001118|85.81%

ADAMTS12
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 5 rs760147804
dbSNP Clinvar 		33637794 507.77 G A PASS 0/1 22 SYNONYMOUS_CODING LOW SILENT None None None None None None ADAMTS12|0.089192289|53.4%

ADAMTS13
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 9 . 136291358 1086.77 C T PASS 1/1 39 SYNONYMOUS_CODING LOW SILENT None None None None None None ADAMTS13|0.009367264|81.4%

ADAMTS16
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 5 . 5303501 688.77 C T PASS 0/1 51 SYNONYMOUS_CODING LOW SILENT None None None None None None ADAMTS16|0.017832591|75.4%
View wes08-paw final 5 . 5140857 244.77 C T PASS 0/1 14 SYNONYMOUS_CODING LOW SILENT None None None None None None ADAMTS16|0.017832591|75.4%

ADAMTSL2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 9 . 136406095 118.81 A G PASS 0/1 6 SYNONYMOUS_CODING LOW SILENT None None None None None None ADAMTSL2|0.0506365|62.46%
View wes08-paw final 9 rs748947724
dbSNP Clinvar 		136406032 120.77 C T PASS 0/1 9 SYNONYMOUS_CODING LOW SILENT None None None None None None ADAMTSL2|0.0506365|62.46%

ADCY7
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 16 . 50334752 770.77 G A PASS 0/1 50 SYNONYMOUS_CODING LOW SILENT None None None None None None ADCY7|0.080648112|55.03%

AHRR
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 5 . 434940 300.77 G T PASS 0/1 13 SYNONYMOUS_CODING LOW SILENT None None None None None None AHRR|0.004021791|87%
View wes08-paw final 5 rs778799504
dbSNP Clinvar 		413479 431.77 G C PASS 0/1 31 SYNONYMOUS_CODING LOW SILENT None None None None None None AHRR|0.004021791|87%

ALDH16A1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 19 . 49971820 1188.77 C T PASS 0/1 71 SYNONYMOUS_CODING LOW SILENT None None None None None None ALDH16A1|0.021103617|73.62%
View wes08-paw final 19 . 49972201 355.77 T A PASS 0/1 30 SYNONYMOUS_CODING LOW SILENT None None None None None None ALDH16A1|0.021103617|73.62%

ALDH1B1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 9 . 38395943 1884.77 T C PASS 1/1 53 SYNONYMOUS_CODING LOW SILENT None None None None None None ALDH1B1|0.096225216|51.9%

ALOX15
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 17 . 4536217 819.77 A G PASS 0/1 60 SYNONYMOUS_CODING LOW SILENT None None None None None None ALOX15|0.017879585|75.36%

ALS2CL
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 3 . 46717878 123.78 C G PASS 0/1 6 SYNONYMOUS_CODING LOW SILENT None None None None None None ALS2CL|0.023531697|72.41%

AMACR
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 5 . 33989413 681.77 C T PASS 0/1 62 SYNONYMOUS_CODING LOW SILENT None None None None None None AMACR|0.038358163|66.34%

AMER3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 2 . 131520389 761.77 T C PASS 1/1 26 SYNONYMOUS_CODING LOW SILENT None None None None None None AMER3|0.004555423|86.36%

AMH
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 19 . 2249478 375.77 G T PASS 0/1 26 SYNONYMOUS_CODING LOW SILENT None None None None None None AMH|0.062219269|59.26%

ANK1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 8 . 41530402 419.77 C T PASS 1/1 12 SYNONYMOUS_CODING LOW SILENT None None None None None None ANK1|0.956309863|2.07%

ANKRD18B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 9 . 33572349 111.77 T C PASS 0/1 12 SYNONYMOUS_CODING LOW SILENT None None None None None None ANKRD18B|0.001295646|93.93%

ANKRD24
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 19 . 4198466 141.84 G A PASS 1/1 6 SYNONYMOUS_CODING LOW SILENT None None None None None None ANKRD24|0.006993334|83.48%
View wes08-paw final 19 . 4207943 1379.77 G A PASS 1/1 47 SYNONYMOUS_CODING LOW SILENT None None None None None None ANKRD24|0.006993334|83.48%

ANKRD55
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 5 . 55422790 31.77 G C PASS 0/1 7 SYNONYMOUS_CODING LOW SILENT None None None None None None ANKRD55|0.097647762|51.59%

ANKRD9
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 14 . 102973945 1082.77 G T PASS 1/1 29 SYNONYMOUS_CODING LOW SILENT None None None None None None ANKRD9|0.023646247|72.35%

APCDD1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 18 . 10487921 634.77 C T PASS 0/1 42 SYNONYMOUS_CODING LOW SILENT None None None None None None APCDD1|0.086159804|53.92%

APEH
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 3 . 49716355 1503.77 A G PASS 1/1 49 SYNONYMOUS_CODING LOW SILENT None None None None None None APEH|0.758566241|6.88%

APIP
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 11 . 34916568 250.78 C A PASS 1/1 9 SYNONYMOUS_CODING LOW SILENT None None None None None None APIP|0.209674362|35.61%

APOD
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 3 . 195295897 474.77 C T PASS 1/1 17 SYNONYMOUS_CODING LOW SILENT None None None None None None APOD|0.102094416|50.79%

ARID1A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 1 . 27100305 716.77 T C PASS 1/1 22 SYNONYMOUS_CODING LOW SILENT None None None None None None ARID1A|0.661736896|9.63%

ARID3A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 19 rs1799595
dbSNP Clinvar 		929753 434.77 A G PASS 1/1 15 SYNONYMOUS_CODING LOW SILENT 0.88419 0.88420 0.12487 None None None None None None ARID3A|0.039022569|66.1%
View wes08-paw final 19 rs6510986
dbSNP Clinvar 		966693 910.77 C T PASS 1/1 31 SYNONYMOUS_CODING LOW SILENT 0.71486 0.71490 0.18296 None None None None None None ARID3A|0.039022569|66.1%
View wes08-paw final 19 rs1051504
dbSNP Clinvar 		971933 241.84 A G PASS 1/1 6 SYNONYMOUS_CODING LOW SILENT 0.59485 0.59480 0.27105 None None None None None None ARID3A|0.039022569|66.1%
View wes08-paw final 19 rs12608658
dbSNP Clinvar 		965043 784.77 T C PASS 1/1 26 SYNONYMOUS_CODING LOW SILENT 0.93890 0.93890 0.05167 None None None None None None ARID3A|0.039022569|66.1%

ARMC5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 16 . 31477595 447.77 C G PASS 0/1 27 SYNONYMOUS_CODING LOW SILENT None None None None None None ARMC5|0.038585217|66.26%

ASPM
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 1 . 197057542 361.77 A G PASS 1/1 11 SYNONYMOUS_CODING LOW SILENT None None None None None None ASPM|0.161871432|41.31%
View wes08-paw final 1 . 197094222 38.77 C T PASS 0/1 8 SYNONYMOUS_CODING LOW SILENT None None None None None None ASPM|0.161871432|41.31%

ATHL1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 11 rs12801980
dbSNP Clinvar 		293188 1364.77 T C PASS 0/1 89 SYNONYMOUS_CODING LOW SILENT 0.40076 0.40080 0.33854 None None None None None None ATHL1|0.004993482|85.83%
View wes08-paw final 11 rs10902120
dbSNP Clinvar 		290816 686.77 A G PASS 0/1 73 SYNONYMOUS_CODING LOW SILENT 0.66653 0.66650 0.24873 None None None None None None ATHL1|0.004993482|85.83%
View wes08-paw final 11 rs72636977
dbSNP Clinvar 		290891 1110.77 T C PASS 0/1 84 SYNONYMOUS_CODING LOW SILENT 0.18490 0.18490 0.08573 None None None None None None ATHL1|0.004993482|85.83%
View wes08-paw final 11 rs72636978
dbSNP Clinvar 		290918 1166.77 G A PASS 0/1 91 SYNONYMOUS_CODING LOW SILENT 0.18091 0.18090 0.08350 None None None None None None ATHL1|0.004993482|85.83%

ATP6V1A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 3 . 113503207 658.77 G A PASS 0/1 34 SYNONYMOUS_CODING LOW SILENT None None None None None None ATP6V1A|0.594298248|11.97%

ATP8B3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 19 . 1796167 2588.77 C T PASS 1/1 86 SYNONYMOUS_CODING LOW SILENT None None None None None None ATP8B3|0.003576519|87.64%
View wes08-paw final 19 . 1811604 2432.77 C T PASS 1/1 77 SYNONYMOUS_CODING LOW SILENT None None None None None None ATP8B3|0.003576519|87.64%

ATXN1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 6 . 16327837 666.77 T C PASS 0/1 43 SYNONYMOUS_CODING LOW SILENT None None None None None None ATXN1|0.832563526|5.05%

AZU1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 19 rs595844
dbSNP Clinvar 		830854 1489.77 T C PASS 0/1 115 SYNONYMOUS_CODING LOW SILENT 0.66693 0.66690 0.34922 None None None None None None AZU1|0.002495752|89.7%
View wes08-paw final 19 rs12460890
dbSNP Clinvar 		829568 335.77 C T PASS 0/1 28 SYNONYMOUS_CODING LOW SILENT 0.33027 0.33030 0.26057 None None None None None None AZU1|0.002495752|89.7%

B4GALNT4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 11 rs1134699
dbSNP Clinvar 		379598 447.77 A G PASS 0/1 47 SYNONYMOUS_CODING LOW SILENT 0.49860 0.49860 0.42043 None None None None None None B4GALNT4|0.009006111|81.67%
View wes08-paw final 11 rs35475866
dbSNP Clinvar 		372700 790.77 G C PASS 0/1 64 SYNONYMOUS_CODING LOW SILENT 0.33067 0.33070 0.29410 None None None None None None B4GALNT4|0.009006111|81.67%

BAI1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 8 . 143561151 345.77 A G PASS 0/1 22 SYNONYMOUS_CODING LOW SILENT None None None None None None ADGRB1|0.079978463|55.17%

BAIAP2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 17 . 79077484 416.77 G A PASS 0/1 26 SYNONYMOUS_CODING LOW SILENT None None None None None None BAIAP2|0.184038679|38.48%

BAIAP3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 16 . 1397346 300.89 C A PASS 1/1 23 SYNONYMOUS_CODING LOW SILENT None None None None None None BAIAP3|0.02462485|71.97%

BCAP31
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final X . 152969534 2201.77 C T PASS 1/1 50 SYNONYMOUS_CODING LOW SILENT None None None None None None BCAP31|0.246665785|31.87%

BCL10
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 1 . 85736419 1052.77 C A PASS 0/1 83 SYNONYMOUS_CODING LOW SILENT None None None None None None BCL10|0.233643394|33.03%

BET1L
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 11 rs13377507
dbSNP Clinvar 		180318 146.9 C T MG_SNP_Filter 1/1 5 SYNONYMOUS_CODING LOW SILENT 0.00319 0.27320 None None None None None None BET1L|0.043373074|64.7%
View wes08-paw final 11 rs13377545
dbSNP Clinvar 		180225 275.77 A G PASS 1/1 10 SYNONYMOUS_CODING LOW SILENT 0.81210 0.81210 None None None None None None BET1L|0.043373074|64.7%

BMP6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 6 rs768025593
dbSNP Clinvar 		7727698 492.77 G A PASS 0/1 38 SYNONYMOUS_CODING LOW SILENT None None None None None None BMP6|0.889563802|3.68%

BRPF1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 3 . 9787542 26.78 A C PASS 0/1 10 SYNONYMOUS_CODING LOW SILENT None None None None None None BRPF1|0.501033473|15.78%

BSG
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 19 rs4682
dbSNP Clinvar 		580665 503.77 T C PASS 0/1 51 SYNONYMOUS_CODING LOW SILENT 0.32648 0.32650 0.24104 None None None None None None BSG|0.001507008|92.75%

BTN1A1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 6 . 26505175 1125.77 C A PASS 1/1 36 SYNONYMOUS_CODING LOW SILENT None None None None None None BTN1A1|0.010791735|80.28%

BTN2A2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 6 . 26390925 766.77 C G PASS 0/1 73 SYNONYMOUS_CODING LOW SILENT None None None None None None BTN2A2|0.003176243|88.35%

BTN3A1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 6 . 26406168 50.77 C T MG_SNP_Filter 0/1 32 SYNONYMOUS_CODING LOW SILENT None None None None None None BTN3A1|0.000649602|97.54%

BTN3A2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 6 . 26368824 323.77 C T MG_SNP_Filter 0/1 60 SYNONYMOUS_CODING LOW SILENT None None None None None None BTN3A2|0.000374625|99.12%

C11orf35
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 11 rs7938269
dbSNP Clinvar 		556857 298.77 G C PASS 0/1 19 SYNONYMOUS_CODING LOW SILENT 0.87820 0.87820 0.10434 None None None None None None LMNTD2|0.001538992|92.59%
View wes08-paw final 11 rs11822657
dbSNP Clinvar 		557584 804.77 G A PASS 0/1 69 SYNONYMOUS_CODING LOW SILENT 0.05431 0.05431 0.06214 None None None None None None LMNTD2|0.001538992|92.59%
View wes08-paw final 11 rs28406183
dbSNP Clinvar 		556521 438.77 C G PASS 0/1 21 SYNONYMOUS_CODING LOW SILENT 0.84605 0.84600 0.13767 None None None None None None LMNTD2|0.001538992|92.59%

C12orf49
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 12 rs747392112
dbSNP Clinvar 		117158125 94.77 G A PASS 0/1 11 SYNONYMOUS_CODING LOW SILENT None None None None None None C12orf49|0.115075741|48.31%

C20orf96
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 20 . 259023 342.77 T C PASS 0/1 23 SYNONYMOUS_CODING LOW SILENT None None None None None None C20orf96|0.00266282|89.34%
View wes08-paw final 20 . 259047 517.77 G A PASS 0/1 28 SYNONYMOUS_CODING LOW SILENT None None None None None None C20orf96|0.00266282|89.34%

C2CD4C
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 19 rs10411998
dbSNP Clinvar 		407900 1631.77 A G PASS 1/1 54 SYNONYMOUS_CODING LOW SILENT 0.74281 0.74280 None None None None None None C2CD4C|0.012693805|78.74%

C4A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 6 . 31951126 408.77 C T PASS 0/1 35 SYNONYMOUS_CODING LOW SILENT None None None None None None C4A|0.012992445|78.51%
View wes08-paw final 6 . 31952053 338.77 C T PASS 0/1 39 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT None None None None None None C4A|0.012992445|78.51%

C5orf42
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 5 . 37224383 25.78 T C PASS 0/1 10 SYNONYMOUS_CODING LOW SILENT None None None None None None C5orf42|0.015292215|76.94%

C7orf60
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 7 . 112462300 684.77 T G PASS 0/1 55 SYNONYMOUS_CODING LOW SILENT None None None None None None C7orf60|0.553008383|13.59%

CACNA1H
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 16 . 1257049 424.77 C T PASS 0/1 67 SYNONYMOUS_CODING LOW SILENT None None None None None None CACNA1H|0.025235592|71.7%

CAMSAP3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 19 . 7670203 195.77 G C PASS 0/1 12 SYNONYMOUS_CODING LOW SILENT None None None None None None CAMSAP3|0.033172236|68.08%
View wes08-paw final 19 . 7682931 421.77 G A PASS 0/1 27 SYNONYMOUS_CODING LOW SILENT None None None None None None CAMSAP3|0.033172236|68.08%

CARD6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 5 . 40852946 319.77 C T PASS 0/1 45 SYNONYMOUS_CODING LOW SILENT None None None None None None CARD6|0.004945721|85.87%

CBWD1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 9 rs2785333
dbSNP Clinvar 		154795 1479.77 T C PASS 1/1 48 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.78694 0.78690 0.23615 None None None None None None CBWD1|0.029140848|69.81%

CC2D1A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 19 . 14030668 615.77 A G PASS 0/1 62 SYNONYMOUS_CODING LOW SILENT None None None None None None CC2D1A|0.03886496|66.15%

CCBL1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 9 . 131598130 1168.77 T C PASS 1/1 33 SYNONYMOUS_CODING LOW SILENT None None None None None None CCBL1|0.058033928|60.39%

CCDC152
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 5 . 42769742 201.8 G T PASS 1/1 7 SYNONYMOUS_CODING LOW SILENT None None None None None None CCDC152|0.104528684|50.32%

CCDC154
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 16 . 1487838 530.77 G A PASS 0/1 57 SYNONYMOUS_CODING LOW SILENT None None None None None None CCDC154|0.005216558|85.55%
View wes08-paw final 16 . 1488691 248.77 A C PASS 0/1 21 SYNONYMOUS_CODING LOW SILENT None None None None None None CCDC154|0.005216558|85.55%

CCDC94
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 19 . 4251072 435.77 T C PASS 0/1 53 SYNONYMOUS_CODING LOW SILENT None None None None None None CCDC94|0.061280766|59.51%
View wes08-paw final 19 . 4254378 635.77 C T PASS 0/1 78 SYNONYMOUS_CODING LOW SILENT None None None None None None CCDC94|0.061280766|59.51%

CCRL2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes08-paw final 3 . 46449777 127.77 G A PASS 0/1 8 SYNONYMOUS_CODING LOW SILENT None None None None None None CCRL2|0.000417703|98.85%