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
RS2095878223 MYBPC3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 4, Cardiomyopathy
RS2095878299 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2095878612 MYBPC3 Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS2095879053 MYBPC3 Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS2095879167 MYBPC3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2095879641 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS2095879705 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2095879885 MYBPC3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2095879886 MYBPC3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Cardiomyopathy
RS2095880858 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2095880876 MYBPC3 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4
RS2095880923 MYBPC3 Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS2095880935 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2095881691 MYBPC3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2095881732 MYBPC3 Health Risk Likely pathogenic Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4
RS2095883336 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Cardiomyopathy
RS2095883374 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS2095883508 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2095883614 MYBPC3 Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS2095884867 MYBPC3 Health Risk Likely pathogenic Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS2095884984 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2095885868 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2095885899 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS2095885930 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS2095886347 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2095887873 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2095887900 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS2095889088 MYBPC3 Health Risk Pathogenic Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS2095889156 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2095889815 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2095889902 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2095889992 MYBPC3 Health Risk Pathogenic Cardiomyopathy, Cardiomyopathy
RS2095890222 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2095890370 MYBPC3 Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS2095890455 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 4
RS2095890510 MYBPC3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2095890782 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2095891230 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2095891398 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4
RS2095891411 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2095893477 MYBPC3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy
RS2095894010 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS2095894178 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Cardiomyopathy
RS2095895403 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2095896008 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2095896870 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2095898363 MYBPC3 Health Risk Likely pathogenic —
RS2095898456 MYBPC3 Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS2095898504 MYBPC3 Health Risk Pathogenic Cardiomyopathy, Hypertrophic cardiomyopathy
RS2095898532 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2095898569 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2095899755 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2095900581 MYBPC3 Health Risk Pathogenic/Likely pathogenic Cardiomyopathy, Hypertrophic cardiomyopathy
RS2095900669 MYBPC3 Health Risk Pathogenic/Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS2095906404 SPI1 Health Risk Likely pathogenic PU.1-mutated agammaglobulinemia, Agammaglobulinemia 10
RS2095906547 SPI1 Health Risk Likely pathogenic PU.1-mutated agammaglobulinemia, Agammaglobulinemia 10
RS2095916574 SPI1 Health Risk Pathogenic PU.1-mutated agammaglobulinemia, Agammaglobulinemia 10
RS2095919119 ANK2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2095976276 DST Health Risk Pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS2095978390 DST Health Risk Pathogenic Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS2095982231 CAMTA1 Health Risk Pathogenic Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities
RS2095985353 CAMTA1 Health Risk Pathogenic —
RS2095989161 CAMTA1 Health Risk Likely pathogenic Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities
RS2096016231 ANK2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2096136332 CAMTA1 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2096224408 AEBP1 Health Risk Likely pathogenic —
RS2096226168 AEBP1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic-like
RS2096229863 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS2096231961 AEBP1 Health Risk Likely pathogenic —
RS2096232673 AEBP1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic-like
RS2096234308 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS2096270423 GCK Health Risk Likely pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young type 2
RS2096270569 GCK Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2096270595 GCK Health Risk Uncertain significance/Uncertain risk allele Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS2096270699 GCK Health Risk Likely pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young type 2
RS2096270755 GCK Health Risk Likely pathogenic Monogenic diabetes, Maturity-onset diabetes of the young
RS2096271045 KCNMA1 Health Risk Likely pathogenic Cerebellar atrophy, developmental delay
RS2096271295 GCK Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Maturity-onset diabetes of the young
RS2096271425 GCK Health Risk Pathogenic/Likely pathogenic/Likely risk allele Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young
RS2096271467 GCK Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2096271482 GCK Health Risk Pathogenic Maturity-onset diabetes of the young, Monogenic diabetes
RS2096271511 GCK Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2096271597 GCK Health Risk Pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young
RS2096271616 GCK Health Risk Likely pathogenic Monogenic diabetes, Maturity-onset diabetes of the young type 2
RS2096271812 GCK Health Risk Uncertain significance/Uncertain risk allele Permanent neonatal diabetes mellitus, Type 2 diabetes mellitus
RS2096271919 GCK Health Risk Uncertain significance/Uncertain risk allele Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS2096273846 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS2096273902 GCK Health Risk Likely pathogenic Maturity-onset diabetes of the young, Monogenic diabetes
RS2096275721 GCK Health Risk Pathogenic Maturity-onset diabetes of the young, Monogenic diabetes
RS2096278285 GCK Health Risk Pathogenic/Likely pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS2096278772 GCK Health Risk Uncertain significance/Uncertain risk allele Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young
RS2096278825 GCK Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2096278847 GCK Health Risk Pathogenic/Likely pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young
RS2096280050 GCK Health Risk Pathogenic Maturity-onset diabetes of the young, Monogenic diabetes
RS2096280084 GCK Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2096280206 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young type 2
RS2096281702 GCK Health Risk Pathogenic/Likely pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young
RS2096281719 GCK Health Risk Likely pathogenic —
RS2096281726 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS2096281776 GCK Health Risk Pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
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