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
RS2497313639 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2497313832 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2497314100 ATM Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2497314466 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497314776 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2497314851 ATM Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Ataxia-telangiectasia syndrome
RS2497314963 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497315481 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2497315848 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2497316583 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2497316771 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2497317144 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2497317392 ROBO3 Health Risk Pathogenic Gaze palsy, familial horizontal
RS2497317632 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2497317778 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2497318044 ATM Health Risk Pathogenic/Likely pathogenic Malignant tumor of breast, Familial cancer of breast
RS2497318451 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2497318651 ROBO3 Health Risk Likely pathogenic Gaze palsy, familial horizontal
RS2497323385 TRPC6 Health Risk Likely pathogenic Focal segmental glomerulosclerosis 2, Focal segmental glomerulosclerosis 2
RS2497323448 TRPC6 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 2, Focal segmental glomerulosclerosis 2
RS2497334592 CTNND1 Health Risk Likely pathogenic CTNND1-related disorder, CTNND1-related disorder
RS2497337197 TRPC6 Health Risk Likely pathogenic Focal segmental glomerulosclerosis 2, Focal segmental glomerulosclerosis 2
RS2497337612 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497344968 MYO7A Health Risk Pathogenic —
RS2497345097 MYO7A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 2, Autosomal recessive nonsyndromic hearing loss 2
RS2497345499 VWF Health Risk Likely pathogenic —
RS2497350286 OTOG Health Risk Pathogenic —
RS2497351730 VWF Health Risk Likely pathogenic —
RS2497353115 KCNA1 Health Risk Pathogenic —
RS2497353297 KCNA1 Health Risk Likely pathogenic Episodic ataxia type 1, Episodic ataxia type 1
RS2497353413 KCNA1 Health Risk Conflicting classifications of pathogenicity —
RS2497353491 KCNA1 Health Risk Likely pathogenic Episodic ataxia type 1, Episodic ataxia type 1
RS2497353507 KCNA1 Health Risk Likely pathogenic Episodic ataxia type 1, Episodic ataxia type 1
RS2497353523 KCNA1 Health Risk Likely pathogenic Episodic ataxia type 1, Episodic ataxia type 1
RS2497353747 KCNA1 Health Risk Pathogenic Episodic ataxia type 1, Episodic ataxia type 1
RS2497354580 ATM Health Risk Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2497354726 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2497356341 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2497356724 ATM Health Risk Pathogenic Gastric cancer, Gastric cancer
RS2497357067 ATM Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2497357603 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2497357735 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2497358555 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2497358878 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497359296 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497359436 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2497359470 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497360132 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2497360914 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2497360984 MYO7A Health Risk Pathogenic —
RS2497361336 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2497362942 MYO7A Health Risk Pathogenic —
RS2497368023 OTOG Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS2497379399 OTOG Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B
RS2497379479 OTOG Health Risk Pathogenic —
RS2497380934 MYO7A Health Risk Pathogenic —
RS2497382846 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497384798 VWF Health Risk Pathogenic Hereditary von Willebrand disease, Hereditary von Willebrand disease
RS2497384941 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2497386356 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2497386486 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497388078 ATM Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2497388625 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2497389201 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2497389469 ATM Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2497389540 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497390162 VWF Health Risk Likely pathogenic VWF-related disorder, VWF-related disorder
RS2497390193 VWF Health Risk Likely pathogenic von Willebrand disease type 1, von Willebrand disease type 1
RS2497394478 HMBS Health Risk Pathogenic Porphyria, acute intermittent
RS2497396246 ROBO4 Health Risk Likely pathogenic Aortic valve disease 3, Aortic valve disease 3
RS2497396935 HMBS Health Risk Pathogenic Acute intermittent porphyria, Acute intermittent porphyria
RS2497403571 CDKN1B Health Risk Pathogenic Multiple endocrine neoplasia type 4, Multiple endocrine neoplasia type 4
RS2497403627 CDKN1B Health Risk Likely pathogenic Multiple endocrine neoplasia type 4, Multiple endocrine neoplasia type 4
RS2497403760 CTNND1 Health Risk Pathogenic —
RS2497403782 CDKN1B Health Risk Pathogenic Multiple endocrine neoplasia type 4, Multiple endocrine neoplasia type 4
RS2497404197 CDKN1B Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497404386 CDKN1B Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497404433 CDKN1B Health Risk Pathogenic/Likely pathogenic Multiple endocrine neoplasia type 4, Multiple endocrine neoplasia type 4
RS2497404448 CDKN1B Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia type 4
RS2497404536 CDKN1B Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497404569 CDKN1B Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497404599 CDKN1B Health Risk Pathogenic Multiple endocrine neoplasia type 4, Multiple endocrine neoplasia type 4
RS2497404772 CDKN1B Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497404938 CDKN1B Health Risk Pathogenic Multiple endocrine neoplasia type 4, Multiple endocrine neoplasia type 4
RS2497405175 CDKN1B Health Risk Pathogenic Multiple endocrine neoplasia type 4, Multiple endocrine neoplasia type 4
RS2497405244 CDKN1B Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia type 4
RS2497405310 CDKN1B Health Risk Pathogenic Multiple endocrine neoplasia type 4, Multiple endocrine neoplasia type 4
RS2497405447 CDKN1B Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497405485 CDKN1B Health Risk Pathogenic Multiple endocrine neoplasia type 4, Multiple endocrine neoplasia type 4
RS2497405541 CDKN1B Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497405587 CDKN1B Health Risk Pathogenic Multiple endocrine neoplasia type 4, Multiple endocrine neoplasia type 4
RS2497405682 CDKN1B Health Risk Pathogenic Multiple endocrine neoplasia type 4, Multiple endocrine neoplasia type 4
RS2497407577 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS2497407584 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS2497407763 MYO7A Health Risk Likely pathogenic MYO7A-related disorder, MYO7A-related disorder
RS2497410235 NCAPD3 Health Risk Likely pathogenic Microcephaly 22, primary
RS2497410309 MYO7A Health Risk Pathogenic Usher syndrome, Usher syndrome
RS2497411466 MYO7A Health Risk Pathogenic —
RS2497416091 ATM Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2497416677 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
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