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 CHR:

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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

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+ Genes 4

+ Genes associated with diseases 2

Genes at Omim

ALDH3A2, HLA-DPB1,
ALDH3A2 Sjogren-Larsson syndrome, 270200 (3)
HLA-DPB1 {Beryllium disease, chronic, susceptibility to} (3)

Genes at Clinical Genomics Database

ALDH3A2,
ALDH3A2 Sjogren-Larsson syndrome

Genes at HGMD

Summary

Number of Variants: 8
Number of Genes: 4

Export to: CSV
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ALDH3A2
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 104001164731-unkownib-ex-60-2253ariyaeskandari-orion-rawdata-9d5-2_s86 soft_filtered 17 rs7216
dbSNP Clinvar 		19578873 624.6 A T PASS 0/1 82 SPLICE_SITE_REGION LOW 0.67851 0.67850 0.44933 None None None None None None ALDH3A2|0.089181599|53.41%

HLA-DPB1
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 104001164731-unkownib-ex-60-2253ariyaeskandari-orion-rawdata-9d5-2_s86 soft_filtered 6 rs1126506
dbSNP Clinvar 		33048459 1536.6 T G PASS 0/1 84 SPLICE_SITE_REGION LOW 0.39916 0.39920 0.28536 None None None None None None HLA-DPA1|0.007131154|83.36%,HLA-DPB1|0.007827013|82.73%

TLR8
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 104001164731-unkownib-ex-60-2253ariyaeskandari-orion-rawdata-9d5-2_s86 soft_filtered X rs3764880
dbSNP Clinvar 		12924826 808.0 A G PASS 1/1 41 SPLICE_SITE_REGION LOW 0.46384 0.46380 0.25343 0.32 0.00 None None None None None None TLR8|0.020704734|73.83%

ZNF410
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 104001164731-unkownib-ex-60-2253ariyaeskandari-orion-rawdata-9d5-2_s86 soft_filtered 14 rs1127392
dbSNP Clinvar 		74388908 243.6 T C PASS 0/1 48 SPLICE_SITE_REGION LOW 0.22804 0.22800 0.34015 None None None None None None ZNF410|0.342720036|24.64%
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 104001164731-unkownib-ex-60-2253ariyaeskandari-orion-rawdata-9d5-2_s86 soft_filtered 4 rs1757935
dbSNP Clinvar 		130023759 410.6 A T PASS 0/1 52 SPLICE_SITE_REGION LOW 0.68271 0.68270 0.31301 None None None None None None C4orf33|0.075968961|56.1%
View 104001164731-unkownib-ex-60-2253ariyaeskandari-orion-rawdata-9d5-2_s86 soft_filtered 14 rs3815500
dbSNP Clinvar 		73404680 497.6 A C PASS 0/1 39 SPLICE_SITE_REGION LOW 0.23802 0.23800 0.15601 None None None None None None DCAF4|0.051038025|62.35%
View 104001164731-unkownib-ex-60-2253ariyaeskandari-orion-rawdata-9d5-2_s86 soft_filtered 10 rs11597439
dbSNP Clinvar 		104184953 1361.03 C G PASS 1/1 62 SPLICE_SITE_REGION LOW 0.28435 0.28430 0.27606 None None None None None None CUEDC2|0.159087985|41.71%
View 104001164731-unkownib-ex-60-2253ariyaeskandari-orion-rawdata-9d5-2_s86 soft_filtered 4 rs2070951
dbSNP Clinvar 		149358014 286.6 G C PASS 0/1 47 SPLICE_SITE_REGION LOW 0.50080 0.50080 0.39743 None None None None None None NR3C2|0.850524024|4.63%
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