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
RS193922384 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy 4, Primary familial hypertrophic cardiomyopathy
RS193922385 MYBPC3 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Left ventricular noncompaction 10
RS193922386 MYBPC3 Health Risk Pathogenic Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4
RS193922390 MYH7 Health Risk Pathogenic Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS193922393 STAR Health Risk Pathogenic/Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS193922394 ABCC8 Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus, Diabetes mellitus
RS193922395 ABCC8 Health Risk Conflicting classifications of pathogenicity Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS193922396 ABCC8 Health Risk Likely pathogenic Neonatal diabetes mellitus, Neonatal diabetes mellitus
RS193922397 ABCC8 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Diabetes mellitus
RS193922398 ABCC8 Health Risk Conflicting classifications of pathogenicity Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS193922399 ABCC8 Health Risk Conflicting classifications of pathogenicity Neonatal diabetes mellitus, Transitory neonatal diabetes mellitus
RS193922400 ABCC8 Health Risk Likely pathogenic Diabetes mellitus, transient neonatal
RS193922401 ABCC8 Health Risk Pathogenic/Likely pathogenic Neonatal diabetes mellitus, Monogenic diabetes
RS193922402 ABCC8 Health Risk Pathogenic/Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS193922403 ABCC8 Health Risk Conflicting classifications of pathogenicity Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS193922404 ABCC8 Health Risk Conflicting classifications of pathogenicity Hereditary hyperinsulinism, Maturity-onset diabetes of the young
RS193922405 ABCC8 Health Risk Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS193922406 ABCC8 Health Risk Conflicting classifications of pathogenicity Neonatal diabetes mellitus, Transitory neonatal diabetes mellitus
RS193922407 ABCC8 Health Risk Pathogenic Diabetes mellitus, permanent neonatal 3
RS193922409 TNNI3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS193922412 WAS Health Risk Conflicting classifications of pathogenicity Wiskott-Aldrich syndrome, Thrombocytopenia 1
RS193922414 WAS Health Risk Likely pathogenic Wiskott-Aldrich syndrome, Wiskott-Aldrich syndrome
RS193922415 WAS Health Risk Pathogenic Wiskott-Aldrich syndrome, Thrombocytopenia 1
RS193922416 WAS Health Risk Likely pathogenic Wiskott-Aldrich syndrome, Wiskott-Aldrich syndrome
RS193922417 AIRE Health Risk Conflicting classifications of pathogenicity Polyglandular autoimmune syndrome, type 1
RS193922418 AIRE Health Risk Pathogenic/Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS193922419 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS193922420 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS193922422 CASR Health Risk Likely pathogenic Familial hypocalciuric hypercalcemia, Familial hypocalciuric hypercalcemia
RS193922423 CASR Health Risk Pathogenic/Likely pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS193922424 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS193922425 CASR Health Risk Likely pathogenic Familial hypocalciuric hypercalcemia, Familial hypocalciuric hypercalcemia
RS193922426 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Familial hypocalciuric hypercalcemia
RS193922427 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS193922428 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Familial hypocalciuric hypercalcemia
RS193922429 CASR Health Risk Likely pathogenic Familial hypocalciuric hypercalcemia, Familial hypocalciuric hypercalcemia
RS193922430 CASR Health Risk Likely pathogenic Familial hypoparathyroidism, Familial hypoparathyroidism
RS193922431 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS193922432 CASR Health Risk Pathogenic/Likely pathogenic Neonatal severe primary hyperparathyroidism, Familial hypocalciuric hypercalcemia
RS193922433 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS193922434 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS193922435 CASR Health Risk Likely pathogenic Familial hypocalciuric hypercalcemia, Familial hypocalciuric hypercalcemia
RS193922436 CASR Health Risk Conflicting classifications of pathogenicity —
RS193922437 CASR Health Risk Likely pathogenic Familial hypocalciuric hypercalcemia, Familial hypocalciuric hypercalcemia
RS193922438 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS193922441 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS193922442 CASR Health Risk Pathogenic/Likely pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS193922444 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Hypercalcemia
RS193922445 CYBB Health Risk Pathogenic/Likely pathogenic Granulomatous disease, chronic
RS193922446 CYBB Health Risk Likely pathogenic Granulomatous disease, chronic
RS193922448 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS193922449 CYBB Health Risk Pathogenic/Likely pathogenic Granulomatous disease, chronic
RS193922450 CYBB Health Risk Likely pathogenic Granulomatous disease, chronic
RS193922451 IFNGR1 Health Risk Likely pathogenic Interferon gamma receptor deficiency, Disseminated atypical mycobacterial infection
RS193922452 MYL2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 10, Hypertrophic cardiomyopathy 10
RS193922454 PHEX Health Risk Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS193922455 PHEX Health Risk Pathogenic/Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS193922456 PHEX Health Risk Pathogenic/Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS193922457 PHEX Health Risk Pathogenic/Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS193922458 PHEX Health Risk Pathogenic/Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS193922459 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS193922460 PHEX Health Risk Pathogenic/Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS193922461 RAG1 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS193922464 RAG1 Health Risk Pathogenic/Likely pathogenic Severe combined immunodeficiency disease, RAG1-related disorder
RS193922465 SHOX Health Risk Conflicting classifications of pathogenicity —
RS193922471 HNF4A Health Risk Likely pathogenic Maturity-onset diabetes of the young type 1, Monogenic diabetes
RS193922473 HNF4A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 1, Familial hyperinsulinism
RS193922474 HNF4A Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS193922475 HNF4A Health Risk Likely pathogenic Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young
RS193922476 HNF4A Health Risk Likely pathogenic Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young
RS193922479 HNF4A Health Risk Pathogenic Maturity-onset diabetes of the young type 1, Hyperinsulinemia
RS193922480 HNF4A Health Risk Pathogenic Maturity-onset diabetes of the young, Monogenic diabetes
RS193922482 HNF1B Health Risk Likely pathogenic/Likely risk allele Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
RS193922484 HNF1B Health Risk Conflicting classifications of pathogenicity Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
RS193922485 HNF1B Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS193922486 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
RS193922487 HNF1B Health Risk Conflicting classifications of pathogenicity Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
RS193922488 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
RS193922489 HNF1B Health Risk Pathogenic/Likely pathogenic Renal cysts and diabetes syndrome, Nonpapillary renal cell carcinoma
RS193922490 HNF1B Health Risk Pathogenic/Likely pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS193922491 HNF1B Health Risk Conflicting classifications of pathogenicity Renal cysts and diabetes syndrome, HNF1B-related disorder
RS193922492 HNF1B Health Risk Conflicting classifications of pathogenicity Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS193922493 HNF1B Health Risk Conflicting classifications of pathogenicity Renal cysts and diabetes syndrome, Autosomal dominant polycystic liver disease
RS193922494 AQP2 Health Risk Likely pathogenic Nephrogenic diabetes insipidus, Nephrogenic diabetes insipidus
RS193922495 AQP2 Health Risk Likely pathogenic Nephrogenic diabetes insipidus, Diabetes insipidus
RS193922496 AQP2 Health Risk Likely pathogenic Nephrogenic diabetes insipidus, Nephrogenic diabetes insipidus
RS193922497 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS193922498 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS193922500 CFTR Health Risk Pathogenic Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS193922501 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS193922502 CFTR Health Risk Conflicting classifications of pathogenicity CFTR-related disorder, Cystic fibrosis
RS193922503 CFTR Health Risk Pathogenic Cystic fibrosis, CFTR-related disorder
RS193922504 CFTR Health Risk Likely pathogenic Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
RS193922505 CFTR Health Risk Pathogenic Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS193922509 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS193922510 CFTR Health Risk Pathogenic Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS193922511 CFTR Health Risk Conflicting classifications of pathogenicity Congenital bilateral aplasia of vas deferens from CFTR mutation, Cystic fibrosis
RS193922513 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS193922514 CFTR Health Risk Pathogenic Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
RS193922515 CFTR Health Risk Pathogenic Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
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