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
RS2496931386 ABCC8 Health Risk Pathogenic —
RS2496931463 ABCC8 Health Risk Pathogenic —
RS2496931481 ABCC8 Health Risk Pathogenic/Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS2496931516 ABCC8 Health Risk Pathogenic —
RS2496938310 KMT2A Health Risk Pathogenic —
RS2496939189 CBL Health Risk Likely pathogenic CBL-related disorder, CBL-related disorder
RS2496939266 CBL Health Risk Pathogenic —
RS2496939296 CBL Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2496941500 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2496941904 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2496943337 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2496943725 UBE4A Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia and gross motor and speech delay, Neurodevelopmental disorder with hypotonia and gross motor and speech delay
RS2496947421 KMT2A Health Risk Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2496948023 KMT2A Health Risk Pathogenic —
RS2496948031 KMT2A Health Risk Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2496948166 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2496953015 TECTA Health Risk Likely pathogenic —
RS2496955412 SORL1 Health Risk Pathogenic —
RS2496957153 KMT2A Health Risk Pathogenic —
RS2496958302 KMT2A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2496959742 UBE4A Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2496961089 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2496961555 KMT2A Health Risk Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2496962569 ALG9 Health Risk Pathogenic ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation
RS2496968735 KMT2A Health Risk Likely pathogenic —
RS2496969328 KMT2A Health Risk Pathogenic —
RS2496969762 KMT2A Health Risk Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2496973394 KMT2A Health Risk Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2496973527 KMT2A Health Risk Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2496973735 TECTA Health Risk Likely pathogenic —
RS2496973799 DYNC2H1 Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS2496974332 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2496977483 TECTA Health Risk Pathogenic/Likely pathogenic Autosomal dominant nonsyndromic hearing loss 12, Autosomal dominant nonsyndromic hearing loss 12
RS2496979158 KMT2A Health Risk Pathogenic —
RS2496983474 USH1C Health Risk Likely pathogenic Usher syndrome type 1C, Usher syndrome type 1C
RS2496983752 USH1C Health Risk Pathogenic —
RS2496983878 USH1C Health Risk Likely pathogenic Usher syndrome type 1C, Usher syndrome type 1C
RS2496984080 USH1C Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C
RS2496984988 KMT2A Health Risk Pathogenic —
RS2496985057 KMT2A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2496987091 TECTA Health Risk Likely pathogenic TECTA-related disorder, TECTA-related disorder
RS2496989171 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2496992226 TECTA Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS2496996911 KMT2A Health Risk Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2496997547 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2496999266 USH1C Health Risk Likely pathogenic Usher syndrome type 1C, Usher syndrome type 1C
RS2496999974 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2497000253 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2497001200 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2497002606 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2497002801 KMT2A Health Risk Pathogenic —
RS2497003399 USH1C Health Risk Likely pathogenic —
RS2497003503 USH1C Health Risk Likely pathogenic Usher syndrome type 1C, Usher syndrome type 1C
RS2497004554 KMT2A Health Risk Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2497004962 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2497006686 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2497007624 USH1C Health Risk Pathogenic —
RS2497008985 KMT2A Health Risk Pathogenic —
RS2497010017 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2497010101 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2497010200 SLC37A4 Health Risk Pathogenic/Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2497010232 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2497011315 SLC37A4 Health Risk Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2497011528 SLC37A4 Health Risk Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2497011562 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2497011739 SLC37A4 Health Risk Pathogenic/Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2497012200 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2497012205 SLC37A4 Health Risk Pathogenic SLC37A4-related disorder, SLC37A4-related disorder
RS2497012984 SERPINH1 Health Risk Pathogenic —
RS2497013377 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2497015450 KMT2A Health Risk Pathogenic —
RS2497015698 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2497016023 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2497016144 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497016267 ATM Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2497016781 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2497017106 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2497017330 SLC37A4 Health Risk Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2497017391 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2497017623 SLC37A4 Health Risk Pathogenic/Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2497017763 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2497018036 SLC37A4 Health Risk Pathogenic/Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2497018051 SLC37A4 Health Risk Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2497018167 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2497018180 SLC37A4 Health Risk Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2497019130 KMT2A Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2497019269 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2497019712 KMT2A Health Risk Pathogenic —
RS2497020016 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2497020327 KMT2A Health Risk Likely pathogenic KMT2A-related disorder, KMT2A-related disorder
RS2497020347 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2497020849 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497021163 SLC37A4 Health Risk Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2497021184 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497021821 KMT2A Health Risk Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2497022061 ATM Health Risk Pathogenic ATM-related cancer predisposition, ATM-related cancer predisposition
RS2497022589 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497022903 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2497022996 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2497023073 ATM Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
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