SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS2497241170 USH1C Health Risk Likely pathogenic Usher syndrome type 1C, Usher syndrome type 1C
RS2497241282 USH1C Health Risk Likely pathogenic Usher syndrome type 1C, Usher syndrome type 1C
RS2497241374 USH1C Health Risk Pathogenic Usher syndrome type 1C, Usher syndrome type 1C
RS2497241574 USH1C Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 18A, Autosomal recessive nonsyndromic hearing loss 18A
RS2497242255 USH1C Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 18A, Autosomal recessive nonsyndromic hearing loss 18A
RS2497243667 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2497245324 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497246164 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2497246546 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2497246577 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2497247115 ATM Health Risk Pathogenic Malignant tumor of breast, Malignant tumor of breast
RS2497248342 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2497248654 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2497248883 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497249377 ATM Health Risk Pathogenic Malignant tumor of breast, Malignant tumor of breast
RS2497251101 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2497252550 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2497252994 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2497253891 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497254389 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497255432 MEN1 Health Risk Likely pathogenic Multiple endocrine neoplasia, type 1
RS2497255851 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497257517 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2497257786 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2497258001 DCPS Health Risk Likely pathogenic Al-Raqad syndrome, Al-Raqad syndrome
RS2497258056 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2497258661 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2497260975 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2497261165 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2497263939 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS2497265324 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2497265977 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2497266653 ATM Health Risk Likely pathogenic Familial cancer of breast, Ataxia-telangiectasia syndrome
RS2497266737 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497266849 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2497268794 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497268894 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2497269688 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2497269855 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2497270038 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497270601 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497270893 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2497271153 MEN1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS2497271189 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2497271798 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497272005 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2497272240 VWF Health Risk Likely pathogenic Von Willebrand disease type 2B, Von Willebrand disease type 2B
RS2497272409 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2497273192 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2497274181 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2497274278 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2497274337 MYO7A Health Risk Pathogenic —
RS2497274779 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2497274904 MYO7A Health Risk Conflicting classifications of pathogenicity —
RS2497275284 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2497275396 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2497276189 MYO7A Health Risk Likely pathogenic —
RS2497276257 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2
RS2497276406 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2497276811 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2497277391 TRPC6 Health Risk Likely pathogenic Focal segmental glomerulosclerosis 2, Focal segmental glomerulosclerosis 2
RS2497277601 TRPC6 Health Risk Likely pathogenic Focal segmental glomerulosclerosis 2, Focal segmental glomerulosclerosis 2
RS2497278194 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497278307 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2497280728 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2497282682 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2497283923 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2497284984 JAM3 Health Risk Likely pathogenic Porencephaly-microcephaly-bilateral congenital cataract syndrome, Porencephaly-microcephaly-bilateral congenital cataract syndrome
RS2497286682 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497288910 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2497289050 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2497289150 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497289542 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2497290026 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2497290700 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2497291790 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS2497292189 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2497292377 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497294789 JAM3 Health Risk Pathogenic —
RS2497297743 JAM3 Health Risk Likely pathogenic Porencephaly-microcephaly-bilateral congenital cataract syndrome, Porencephaly-microcephaly-bilateral congenital cataract syndrome
RS2497297808 ALG9 Health Risk Pathogenic ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation
RS2497298047 ROBO3 Health Risk Pathogenic Gaze palsy, familial horizontal
RS2497298300 ALG9 Health Risk Pathogenic/Likely pathogenic ALG9 congenital disorder of glycosylation, Gillessen-Kaesbach-Nishimura syndrome
RS2497300203 VWF Health Risk Likely pathogenic VWF-related disorder, VWF-related disorder
RS2497302924 ANO1 Health Risk Pathogenic Moyamoya disease 7, Moyamoya disease 7
RS2497303304 ROBO3 Health Risk Likely pathogenic ROBO3-related disorder, ROBO3-related disorder
RS2497307854 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2497308131 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2497308278 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2497308613 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2497308850 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2497309309 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2497309712 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2497309962 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2497310250 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2497310600 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2497311554 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2497311606 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2497312636 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497312887 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
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