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
RS137854328 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS137854329 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis syndrome
RS137854330 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis syndrome
RS137854331 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS137854335 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome
RS137854336 TSC2 Health Risk Likely pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis syndrome
RS137854337 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS137854343 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS137854345 TSC2 Health Risk Pathogenic/Likely pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS137854346 TSC2 Health Risk Pathogenic/Likely pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS137854353 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS137854355 TSC2 Health Risk Pathogenic —
RS137854359 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS137854360 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS137854361 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS137854363 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS137854366 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS137854368 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS137854371 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome
RS137854375 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS137854378 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS137854380 TSC2 Health Risk Pathogenic/Likely pathogenic Tuberous sclerosis 2, Lymphangiomyomatosis
RS137854382 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS137854391 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS137854393 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome
RS137854397 TSC2 Health Risk Pathogenic/Likely pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS137854399 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS137854405 TSC2 Health Risk Pathogenic —
RS137854406 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS137854415 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS137854421 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS137854425 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS137854426 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Lymphangiomyomatosis
RS137854427 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis syndrome
RS137854429 TK2 Health Risk Pathogenic Mitochondrial DNA depletion syndrome, myopathic form
RS137854430 TK2 Health Risk Pathogenic Mitochondrial DNA depletion syndrome, myopathic form
RS137854431 TK2 Health Risk Pathogenic Mitochondrial DNA depletion syndrome, myopathic form
RS137854432 TK2 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome, myopathic form
RS137854433 TG Health Risk Pathogenic Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS137854434 TG Health Risk Pathogenic/Likely pathogenic Iodotyrosyl coupling defect, TG-related disorder
RS137854435 SACK1H Health Risk Pathogenic Amelogenesis imperfecta, hypocalcification type
RS137854436 SACK1H Health Risk Pathogenic Amelogenesis imperfecta, type 3A
RS137854437 SACK1H Health Risk Pathogenic Amelogenesis imperfecta, type 3A
RS137854438 SACK1H Health Risk Pathogenic Amelogenesis imperfecta, type 3A
RS137854439 SACK1H Health Risk Pathogenic Amelogenesis imperfecta, type 3A
RS137854440 SACK1H Health Risk Pathogenic/Likely pathogenic Amelogenesis imperfecta, hypocalcification type
RS137854441 SACK1H Health Risk Pathogenic Amelogenesis imperfecta, hypocalcification type
RS137854442 SACK1H Health Risk Pathogenic Amelogenesis imperfecta, type 3A
RS137854443 SACK1H Health Risk Pathogenic Amelogenesis imperfecta, type 3A
RS137854444 SACK1H Health Risk Pathogenic Amelogenesis imperfecta, hypocalcification type
RS137854445 ELANE Health Risk Pathogenic/Likely pathogenic Cyclical neutropenia, Neutropenia
RS137854446 ELANE Health Risk Conflicting classifications of pathogenicity Cyclical neutropenia, Neutropenia
RS137854447 ELANE Health Risk Pathogenic/Likely pathogenic Cyclical neutropenia, Neutropenia
RS137854448 ELANE Health Risk Pathogenic Neutropenia, severe congenital
RS137854449 ELANE Health Risk Pathogenic Neutropenia, severe congenital
RS137854450 ELANE Health Risk Conflicting classifications of pathogenicity Neutropenia, severe congenital
RS137854451 ELANE Health Risk Pathogenic Neutropenia, severe congenital
RS137854452 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS137854453 ELN;ELN-AS1 Health Risk Pathogenic Supravalvar aortic stenosis, Cutis laxa
RS137854454 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS137854455 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS137854456 FBN1 Health Risk Conflicting classifications of pathogenicity MARFAN SYNDROME, SEVERE CLASSIC
RS137854457 FBN1 Health Risk Likely pathogenic MARFAN SYNDROME, MILD VARIABLE
RS137854458 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS137854459 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS137854460 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS137854461 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS137854462 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS137854463 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS137854464 FBN1 Health Risk Likely pathogenic Ectopia lentis 1, isolated
RS137854465 FBN1 Health Risk Pathogenic Neonatal Marfan syndrome, Neonatal Marfan syndrome
RS137854466 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS137854467 FBN1 Health Risk Pathogenic Marfan syndrome, atypical
RS137854468 FBN1 Health Risk Conflicting classifications of pathogenicity MARFAN SYNDROME, MILD
RS137854469 FBN1 Health Risk Likely pathogenic Marfan syndrome, Cardiovascular phenotype
RS137854470 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS137854471 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS137854472 FBN1 Health Risk Conflicting classifications of pathogenicity Neonatal Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS137854473 FBN1 Health Risk Pathogenic Neonatal Marfan syndrome, Neonatal Marfan syndrome
RS137854474 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS137854476 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
RS137854477 FBN1 Health Risk Likely pathogenic Marfan syndrome, atypical
RS137854478 FBN1 Health Risk Pathogenic Neonatal Marfan syndrome, Marfan syndrome
RS137854479 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
RS137854480 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Ectopia lentis 1
RS137854481 FBN1 Health Risk Pathogenic Neonatal Marfan syndrome, Marfan syndrome
RS137854482 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS137854483 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS137854484 FBN1 Health Risk Pathogenic Neonatal Marfan syndrome, Neonatal Marfan syndrome
RS137854485 FBN1 Health Risk Pathogenic MARFAN SYNDROME, AUTOSOMAL RECESSIVE
RS137854486 FN1 Health Risk Pathogenic Glomerulopathy with fibronectin deposits 2, Glomerulopathy with fibronectin deposits 2
RS137854487 FN1 Health Risk Pathogenic Glomerulopathy with fibronectin deposits 2, Glomerulopathy with fibronectin deposits 2
RS137854488 FN1 Health Risk Pathogenic Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type
RS137854489 DKC1 Health Risk Likely pathogenic Dyskeratosis congenita, X-linked
RS137854491 DKC1 Health Risk Pathogenic Dyskeratosis congenita, X-linked
RS137854493 OPHN1 Health Risk Pathogenic X-linked intellectual disability-cerebellar hypoplasia syndrome, X-linked intellectual disability-cerebellar hypoplasia syndrome
RS137854494 ABCA1 Health Risk Likely pathogenic Tangier disease, ABCA1-related disorder
RS137854495 ABCA1 Health Risk Pathogenic Tangier disease, Tangier disease
RS137854497 ABCA1 Health Risk Likely pathogenic Tangier disease, Tangier disease
RS137854498 ABCA1 Health Risk Pathogenic Tangier disease, variant
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