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
RS2142851443 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2142851672 MYBPC3 Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS2142851681 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS2142851880 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2142852868 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2142852888 MYBPC3 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2142852944 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2142853009 MYBPC3 Health Risk Pathogenic/Likely pathogenic Cardiomyopathy, Hypertrophic cardiomyopathy
RS2142853029 MYBPC3 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2142853045 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2142855105 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4
RS2142855351 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2142856521 MYBPC3 Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS2142856547 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS2142856590 MYBPC3 Health Risk Pathogenic —
RS2142856598 MYBPC3 Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS2142856729 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy
RS2142857246 TUBGCP4 Health Risk Likely pathogenic —
RS2142857362 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2142857371 MYBPC3 Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS2142859053 MYBPC3 Health Risk Likely pathogenic Cardiovascular phenotype, Hypertrophic cardiomyopathy 4
RS2142859071 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2142859074 MYBPC3 Health Risk Pathogenic Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS2142859289 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2142859359 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2142859427 MYBPC3 Health Risk Likely pathogenic —
RS2142860329 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy 4
RS2142860830 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy
RS2142860924 MYBPC3 Health Risk Pathogenic/Likely pathogenic Cardiomyopathy, Hypertrophic cardiomyopathy
RS2142861049 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy 4
RS2142861091 MYBPC3 Health Risk Pathogenic —
RS2142861325 MYBPC3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2142861454 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2142861512 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2142861729 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS2142861940 MYBPC3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2142862199 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2142862326 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS2142862333 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS2142864164 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS2142864321 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS2142864883 PIGL Health Risk Likely pathogenic CHIME syndrome, CHIME syndrome
RS2142865197 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2142865199 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2142865236 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS2142865708 MYBPC3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy 4
RS2142865711 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS2142866256 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2142866326 MYBPC3 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2142866705 CTCF Health Risk Pathogenic —
RS2142867623 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2142867765 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS2142867804 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2142867855 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2142868665 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2142868691 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS2142868794 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2142869314 MYBPC3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2142869406 MYBPC3 Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS2142869736 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS2142869764 CYBA Health Risk Conflicting classifications of pathogenicity Granulomatous disease, chronic
RS2142869802 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy 4
RS2142873834 CYBA Health Risk Likely pathogenic Granulomatous disease, chronic
RS2142875237 CYBA Health Risk Likely pathogenic Granulomatous disease, chronic
RS2142877263 CYBA Health Risk Pathogenic Granulomatous disease, chronic
RS2142881946 DLG4 Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2142883490 CYBA Health Risk Pathogenic Granulomatous disease, chronic
RS2142883686 TUBGCP4 Health Risk Pathogenic —
RS2142883774 DLG4 Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2142883806 TUBGCP4 Health Risk Pathogenic —
RS2142884288 DLG4 Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2142884393 SPI1 Health Risk Pathogenic PU.1-mutated agammaglobulinemia, Agammaglobulinemia 10
RS2142884433 DLG4 Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2142885279 DLG4 Health Risk Pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2142885581 DLG4 Health Risk Pathogenic —
RS2142885592 DLG4 Health Risk Pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2142885916 DLG4 Health Risk Pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2142886433 DLG4 Health Risk Pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2142886600 DLG4 Health Risk Pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2142886687 DLG4 Health Risk Pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2142886707 DLG4 Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2142887156 CTCF Health Risk Likely pathogenic CTCF-related neurodevelopmental disorder, CTCF-related neurodevelopmental disorder
RS2142888007 DLG4 Health Risk Pathogenic Intellectual developmental disorder 62, Inborn genetic diseases
RS2142896426 MVD Health Risk Likely pathogenic Linear porokeratosis, Linear porokeratosis
RS2142896446 TUBGCP4 Health Risk Pathogenic —
RS2142896980 TUBGCP4 Health Risk Likely pathogenic —
RS2142904095 IGHM Health Risk Likely pathogenic Autosomal recessive agammaglobulinemia 1, Autosomal recessive agammaglobulinemia 1
RS2142904392 IGHM Health Risk Pathogenic Autosomal recessive agammaglobulinemia 1, Autosomal recessive agammaglobulinemia 1
RS2142906391 MVD Health Risk Pathogenic Porokeratosis 7, multiple types
RS2142909461 CARMIL2 Health Risk Likely pathogenic —
RS2142909875 CARMIL2 Health Risk Pathogenic —
RS2142916354 CARMIL2 Health Risk Pathogenic —
RS2142927120 CARMIL2 Health Risk Likely pathogenic —
RS2142945856 CDT1 Health Risk Pathogenic Meier-Gorlin syndrome 4, Meier-Gorlin syndrome 4
RS2142947295 ABAT Health Risk Likely pathogenic Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS2142950251 CARMIL2 Health Risk Pathogenic —
RS2142950877 APRT Health Risk Likely pathogenic —
RS2142952273 APRT Health Risk Pathogenic —
RS2142952361 APRT Health Risk Pathogenic —
RS2142959784 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
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