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
RS431825351 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825352 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825354 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825357 BRCA2 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS431825359 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825360 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825362 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825363 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825364 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825368 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825370 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825371 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS431825372 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825373 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825374 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825375 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825376 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825377 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825379 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825380 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825382 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS431825384 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS431825386 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS431825387 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS431825388 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825389 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS431825390 BRCA1 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer
RS431825391 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825392 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825394 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825395 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825396 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825397 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS431825398 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS431825399 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825400 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS431825401 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825402 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825403 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825404 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS431825406 BRCA1 Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS431825407 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825409 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS431825410 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS431825412 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825414 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS431825415 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825417 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431825420 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS431905486 SLC26A4 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
RS431905493 ARSB Health Risk Pathogenic Mucopolysaccharidosis, type vi
RS431905494 ARSB Health Risk Pathogenic Mucopolysaccharidosis, type vi
RS431905495 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS431905496 ARSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS431905497 IFT80 Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 2, Asphyxiating thoracic dystrophy 2
RS431905498 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS431905499 DYNC2H1 Health Risk Pathogenic Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS431905500 DYNC2H1 Health Risk Pathogenic Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS431905501 PGK1 Health Risk Pathogenic Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
RS431905502 PGK1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, PGK1-related disorder
RS431905503 PGK1 Health Risk Likely pathogenic Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
RS431905504 SLC6A3 Health Risk Pathogenic Classic dopamine transporter deficiency syndrome, Parkinsonism-dystonia
RS431905505 WDR35 Health Risk Pathogenic Short-rib thoracic dysplasia 7 with or without polydactyly, Short-rib thoracic dysplasia 7 with or without polydactyly
RS431905506 IFT140 Health Risk Pathogenic Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS431905507 DYNC2H1 Health Risk Pathogenic Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS431905508 NEK1 Health Risk Pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS431905509 SLC25A1 Health Risk Pathogenic/Likely pathogenic D, L-2-hydroxyglutaric aciduria
RS431905510 SLC25A1 Health Risk Likely pathogenic D, L-2-hydroxyglutaric aciduria
RS431905511 SNCA Health Risk Pathogenic Autosomal dominant Parkinson disease 1, Autosomal dominant Parkinson disease 1
RS431905512 STX11 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis
RS431905513 TNC Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 56, Autosomal dominant nonsyndromic hearing loss 56
RS431905514 SLC6A3 Health Risk Likely pathogenic Classic dopamine transporter deficiency syndrome, Parkinsonism-dystonia
RS431905515 SLC6A3 Health Risk Pathogenic Classic dopamine transporter deficiency syndrome, Classic dopamine transporter deficiency syndrome
RS431905516 SLC6A3 Health Risk Conflicting classifications of pathogenicity Classic dopamine transporter deficiency syndrome, Parkinsonism-dystonia
RS431905517 SLC26A5 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 61, Autosomal recessive nonsyndromic hearing loss 61
RS431905518 SLC26A5 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 61, Autosomal recessive nonsyndromic hearing loss 61
RS431905519 DYNC2I2 Health Risk Pathogenic Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly
RS431905520 IFT140 Health Risk Pathogenic Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS431905521 IFT140 Health Risk Pathogenic/Likely pathogenic Saldino-Mainzer syndrome, Jeune thoracic dystrophy
RS431905522 IFT140 Health Risk Pathogenic Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS4369876 SCN9A Health Risk Conflicting classifications of pathogenicity Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain
RS439898 GBA1 Health Risk Pathogenic Gaucher disease, Gaucher disease
RS4402960 IGF2BP2 Health Risk risk factor Diabetes mellitus type 2, susceptibility to
RS4493011 HCN4 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 8, Cardiovascular phenotype
RS4494157 FCN3 Health Risk risk factor Rheumatic heart disease, Rheumatic heart disease
RS4508371 MYO1E Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 6, Focal segmental glomerulosclerosis 6
RS4512367 PREX2 Health Risk association Lip and oral cavity carcinoma, Lip and oral cavity carcinoma
RS4524 F5 Health Risk Conflicting classifications of pathogenicity Thrombophilia due to activated protein C resistance, Congenital factor V deficiency
RS453602 PDLIM4 Health Risk risk factor BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15, BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15
RS4538 CYP11B2 Health Risk Likely pathogenic CYP11B2-related disorder, CYP11B2-related disorder
RS45437094 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS45437099 SCN5A Health Risk Conflicting classifications of pathogenicity Progressive familial heart block, type 1A
RS45437192 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS45437193 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS45437797 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS45438192 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS45438205 TSC2 Health Risk Likely pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS45438400 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS45438592 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome
RS45441497 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
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