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
RS730880404 ACTC1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Atrial septal defect 5
RS730880406 ACTC1 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 5, Dilated cardiomyopathy 1R
RS730880410 ACTC1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
RS730880411 BRAF Health Risk Conflicting classifications of pathogenicity RASopathy, Noonan syndrome and Noonan-related syndrome
RS730880420 CAV3 Health Risk Likely pathogenic —
RS730880422 CAV3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Caveolinopathy
RS730880427 CBL Health Risk Conflicting classifications of pathogenicity CBL-related disorder, RASopathy
RS730880428 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS730880433 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS730880434 CBL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RASopathy
RS730880437 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Cardiovascular phenotype
RS730880438 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Cardiovascular phenotype
RS730880439 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS730880440 GLA Health Risk Pathogenic Fabry disease, GLA-related disorder
RS730880441 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Cardiovascular phenotype
RS730880442 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS730880443 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS730880444 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS730880447 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS730880449 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS730880450 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Cardiovascular phenotype
RS730880451 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS730880452 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS730880453 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS730880454 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Cardiovascular phenotype
RS730880455 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS730880460 HRAS Health Risk Pathogenic Costello syndrome, 6 conditions
RS730880469 KRAS Health Risk Conflicting classifications of pathogenicity RASopathy, 12 conditions
RS730880470 KRAS Health Risk Likely pathogenic —
RS730880471 KRAS Health Risk Likely pathogenic Autoimmune lymphoproliferative syndrome type 4, Cardiofaciocutaneous syndrome 2
RS730880472 KRAS Health Risk Conflicting classifications of pathogenicity Neoplasm, Neoplasm
RS730880475 LAMP2 Health Risk Conflicting classifications of pathogenicity Danon disease, Cardiovascular phenotype
RS730880479 LAMP2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS730880483 LAMP2 Health Risk Pathogenic/Likely pathogenic Danon disease, Danon disease
RS730880485 LAMP2 Health Risk Pathogenic —
RS730880490 LAMP2 Health Risk Pathogenic —
RS730880492 LAMP2 Health Risk Pathogenic Cardiomyopathy, Danon disease
RS730880493 LAMP2 Health Risk Pathogenic —
RS730880494 LAMP2 Health Risk Conflicting classifications of pathogenicity Danon disease, LAMP2-related disorder
RS730880496 LAMP2 Health Risk Pathogenic/Likely pathogenic Danon disease, Danon disease
RS730880497 LAMP2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Danon disease
RS730880498 LAMP2 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS730880500 MAP2K1 Health Risk Conflicting classifications of pathogenicity RASopathy, MAP2K1-related disorder
RS730880502 MAP2K1 Health Risk Likely pathogenic Noonan syndrome, Noonan syndrome
RS730880503 MAP2K1 Health Risk Pathogenic/Likely pathogenic MAP2K1-related disorder, RASopathy
RS730880507 MAP2K1 Health Risk Likely pathogenic —
RS730880508 MAP2K1 Health Risk Pathogenic RASopathy, RASopathy
RS730880509 MAP2K2 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiofaciocutaneous syndrome 4
RS730880513 MAP2K2 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS730880516 MAP2K2 Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS730880517 MAP2K2 Health Risk Pathogenic/Likely pathogenic Cardiofaciocutaneous syndrome 1, RASopathy
RS730880518 MAP2K2 Health Risk Likely pathogenic RASopathy, RASopathy
RS730880522 MAP2K2 Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS730880523 MAP2K2 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS730880526 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS730880530 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS730880531 MYBPC3 Health Risk Pathogenic/Likely pathogenic Cardiomyopathy, Hypertrophic cardiomyopathy
RS730880533 MYBPC3 Health Risk Pathogenic Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS730880535 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS730880538 MYBPC3 Health Risk Pathogenic Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS730880539 MYBPC3 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS730880541 MYBPC3 Health Risk Pathogenic Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS730880542 MYBPC3 Health Risk Pathogenic Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS730880544 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4
RS730880545 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS730880546 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Cardiomyopathy
RS730880551 MYBPC3 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction cardiomyopathy, Cardiovascular phenotype
RS730880552 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS730880553 MYBPC3 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS730880555 MYBPC3 Health Risk Pathogenic Cardiovascular phenotype, Hypertrophic cardiomyopathy 4
RS730880557 MYBPC3 Health Risk Likely pathogenic —
RS730880558 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS730880560 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS730880563 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS730880564 MYBPC3 Health Risk Likely pathogenic —
RS730880565 MYBPC3 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Cardiomyopathy
RS730880566 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS730880568 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS730880569 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4
RS730880574 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS730880575 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS730880576 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS730880578 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4
RS730880580 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS730880581 MYBPC3 Health Risk Likely pathogenic —
RS730880582 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS730880584 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS730880586 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4
RS730880589 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS730880590 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS730880592 MYBPC3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS730880594 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS730880595 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS730880597 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS730880598 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS730880600 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4
RS730880601 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS730880602 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS730880603 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Asymmetric septal hypertrophy
RS730880604 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
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