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
RS121912420 SERPIND1 Health Risk Pathogenic Heparin cofactor II deficiency, Heparin cofactor II deficiency
RS121912421 ADAR Health Risk Pathogenic Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS121912422 ADAR Health Risk Pathogenic Symmetrical dyschromatosis of extremities, Symmetrical dyschromatosis of extremities
RS121912423 ADAR Health Risk Pathogenic Symmetrical dyschromatosis of extremities, Symmetrical dyschromatosis of extremities
RS121912424 CD79B Health Risk Pathogenic Agammaglobulinemia 6, autosomal recessive
RS121912425 ITPR1 Health Risk Pathogenic Spinocerebellar ataxia type 15/16, Spinocerebellar ataxia type 15/16
RS121912430 IGF1 Health Risk Conflicting classifications of pathogenicity Growth delay due to insulin-like growth factor type 1 deficiency, Growth delay due to insulin-like growth factor type 1 deficiency
RS121912431 SOD1 Health Risk Pathogenic Amyotrophic lateral sclerosis type 1, Motor neuron disease
RS121912432 SOD1 Health Risk Pathogenic/Likely pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS121912433 SOD1 Health Risk Pathogenic Amyotrophic lateral sclerosis type 1, Spastic tetraplegia and axial hypotonia
RS121912434 SOD1 Health Risk Pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS121912435 SOD1 Health Risk Pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 10
RS121912436 SOD1 Health Risk Pathogenic/Likely pathogenic Amyotrophic lateral sclerosis type 1, SOD1-related disorder
RS121912437 SOD1 Health Risk Pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS121912438 SOD1 Health Risk Pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS121912439 SOD1 Health Risk Pathogenic Amyotrophic lateral sclerosis type 1, Motor neuron disease
RS121912440 SOD1 Health Risk Pathogenic Amyotrophic lateral sclerosis type 1, SOD1-related disorder
RS121912441 SOD1 Health Risk Pathogenic/Likely pathogenic Amyotrophic lateral sclerosis type 1, Motor neuron disease
RS121912442 SOD1 Health Risk Pathogenic Amyotrophic lateral sclerosis type 1, SOD1-related disorder
RS121912443 SOD1 Health Risk Pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis
RS121912444 SOD1 Health Risk Pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS121912445 SOD1 Health Risk Likely pathogenic Amyotrophic lateral sclerosis 1, autosomal recessive
RS121912446 SOD1 Health Risk Pathogenic Amyotrophic lateral sclerosis type 1, SOD1-related disorder
RS121912447 SOD1 Health Risk Pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS121912448 SOD1 Health Risk Pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS121912449 SOD1 Health Risk Pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS121912450 SOD1 Health Risk Pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS121912451 SOD1 Health Risk Pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS121912452 SOD1 Health Risk Pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS121912453 SOD1 Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS121912454 SOD1 Health Risk Pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS121912455 SCAF4;SOD1 Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS121912456 SOD1 Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS121912457 SOD1 Health Risk Pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS121912458 SOD1 Health Risk Pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS121912459 SOD1 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis 1, autosomal recessive
RS121912461 ITGB4 Health Risk Pathogenic Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS121912462 ITGB4 Health Risk Pathogenic Junctional epidermolysis bullosa with pyloric atresia, Epidermolysis bullosa
RS121912463 ITGB4 Health Risk Likely pathogenic Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS121912464 ITGB4 Health Risk Pathogenic Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS121912465 ITGB4 Health Risk Pathogenic Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS121912466 ITGB4 Health Risk Pathogenic Epidermolysis bullosa, junctional 5A
RS121912467 ITGB4 Health Risk Pathogenic/Likely pathogenic Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa
RS121912468 ITGB4 Health Risk Pathogenic/Likely pathogenic Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa
RS121912469 IRF1 Health Risk Pathogenic Gastric cancer, Gastric cancer
RS121912470 IRF1 Health Risk Pathogenic Non-small cell lung carcinoma, Non-small cell lung carcinoma
RS121912472 JAK2 Health Risk Pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS121912474 KRT5 Health Risk Pathogenic Epidermolysis bullosa simplex 2B, generalized intermediate
RS121912475 KRT5 Health Risk Pathogenic Epidermolysis bullosa simplex, Epidermolysis bullosa simplex 2B
RS121912476 KRT5 Health Risk risk factor Epidermolysis bullosa simplex 2C, localized
RS121912478 KRT17 Health Risk Pathogenic/Likely pathogenic Pachyonychia congenita 2, Steatocystoma multiplex
RS121912482 LAMB3 Health Risk Pathogenic/Likely pathogenic Junctional epidermolysis bullosa, non-Herlitz type
RS121912483 LAMB3 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS121912484 LAMB3 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS121912485 LAMB3 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS121912486 LAMB3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, non-Herlitz type
RS121912487 LAMB3 Health Risk Pathogenic Junctional epidermolysis bullosa, non-Herlitz type
RS121912488 LAMB2 Health Risk Pathogenic/Likely pathogenic Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome
RS121912489 LAMB2 Health Risk Pathogenic Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome
RS121912490 LAMB2 Health Risk Pathogenic Pierson syndrome, Pierson syndrome
RS121912491 LAMB2 Health Risk Likely pathogenic LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome
RS121912492 LAMB2 Health Risk Pathogenic LAMB2-related infantile-onset nephrotic syndrome, LAMB2-related infantile-onset nephrotic syndrome
RS121912493 LMNA Health Risk Conflicting classifications of pathogenicity Mandibuloacral dysplasia with type A lipodystrophy, atypical
RS121912494 LMNA Health Risk Likely pathogenic Mandibuloacral dysplasia with type A lipodystrophy, Charcot-Marie-Tooth disease type 2
RS121912495 LMNA Health Risk Pathogenic Congenital muscular dystrophy due to LMNA mutation, Congenital muscular dystrophy due to LMNA mutation
RS121912496 LMNA Health Risk Pathogenic/Likely pathogenic Congenital muscular dystrophy due to LMNA mutation, Charcot-Marie-Tooth disease type 2
RS121912498 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS121912499 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS121912501 LIFR Health Risk Pathogenic Stuve-Wiedemann syndrome, Stuve-Wiedemann syndrome
RS121912502 LIPC Health Risk Conflicting classifications of pathogenicity Hyperlipidemia due to hepatic triglyceride lipase deficiency, Hyperlipidemia due to hepatic triglyceride lipase deficiency
RS121912503 LPA Health Risk Pathogenic Lipoprotein(a) deficiency, congenital
RS121912504 KCNH2 Health Risk Pathogenic/Likely pathogenic Long QT syndrome 2, Congenital long QT syndrome
RS121912505 KCNH2 Health Risk Pathogenic Long QT syndrome 2, Congenital long QT syndrome
RS121912506 KCNH2 Health Risk Likely pathogenic Long QT syndrome 2, Congenital long QT syndrome
RS121912507 KCNH2 Health Risk Likely pathogenic Long QT syndrome 2, Congenital long QT syndrome
RS121912508 KCNH2 Health Risk Pathogenic/Likely pathogenic Long QT syndrome 2, Congenital long QT syndrome
RS121912509 KCNH2 Health Risk Pathogenic Long QT syndrome 2, Long QT syndrome
RS121912510 KCNH2 Health Risk Likely pathogenic Long QT syndrome 2, Congenital long QT syndrome
RS121912511 KCNH2 Health Risk Pathogenic Long QT syndrome 2, Congenital long QT syndrome
RS121912512 KCNH2 Health Risk Pathogenic/Likely pathogenic Long QT syndrome 2, Congenital long QT syndrome
RS121912513 KCNH2 Health Risk Pathogenic —
RS121912514 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 1/2, digenic
RS121912515 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 2/3, digenic
RS121912516 KCNH2 Health Risk Pathogenic Long QT syndrome 2, Congenital long QT syndrome
RS121912517 LHB Health Risk Pathogenic Isolated lutropin deficiency, Isolated lutropin deficiency
RS121912518 LHCGR Health Risk Conflicting classifications of pathogenicity Gonadotropin-independent familial sexual precocity, Precocious puberty in males
RS121912519 LHCGR Health Risk Pathogenic Gonadotropin-independent familial sexual precocity, Gonadotropin-independent familial sexual precocity
RS121912520 LHCGR Health Risk Pathogenic Leydig cell agenesis, Luteinizing hormone resistance
RS121912521 LHCGR Health Risk Pathogenic Gonadotropin-independent familial sexual precocity, Gonadotropin-independent familial sexual precocity
RS121912523 LHCGR Health Risk Pathogenic/Likely pathogenic Leydig cell agenesis, Gonadotropin-independent familial sexual precocity
RS121912524 LHCGR Health Risk Pathogenic/Likely pathogenic Leydig cell agenesis, Luteinizing hormone resistance
RS121912525 LHCGR Health Risk Pathogenic/Likely pathogenic Leydig hypoplasia, type I
RS121912526 LHCGR Health Risk Likely pathogenic Gonadotropin-independent familial sexual precocity, Precocious puberty in males
RS121912527 LHCGR Health Risk Pathogenic Leydig cell hypoplasia, type II
RS121912528 LHCGR Health Risk Likely pathogenic Gonadotropin-independent familial sexual precocity, Gonadotropin-independent familial sexual precocity
RS121912529 LHCGR Health Risk Pathogenic Leydig cell agenesis, Luteinizing hormone resistance
RS121912530 LHCGR Health Risk Pathogenic Leydig cell hypoplasia, type II
RS121912531 LHCGR Health Risk Pathogenic Gonadotropin-independent familial sexual precocity, LHCGR-related disorder
RS121912532 LHCGR Health Risk Likely pathogenic Leydig cell adenoma, somatic
RS121912533 LHCGR Health Risk Pathogenic Gonadotropin-independent familial sexual precocity, Gonadotropin-independent familial sexual precocity
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