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
RS57966821 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2
RS57977969 KRT1 Health Risk Pathogenic Diffuse nonepidermolytic palmoplantar keratoderma, Diffuse nonepidermolytic palmoplantar keratoderma
RS57983345 LMNA Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, LMNA-related disorder
RS58008462 GFAP Health Risk Pathogenic Alexander disease, Alexander disease
RS58013325 LMNA Health Risk Pathogenic Primary dilated cardiomyopathy, Charcot-Marie-Tooth disease type 2
RS58016109 HIF3A Health Risk Conflicting classifications of pathogenicity —
RS58026994 KRT10 Health Risk Pathogenic Epidermolytic hyperkeratosis 2A, autosomal dominant
RS58033964 PPA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS58048078 LMNA Health Risk Pathogenic/Likely pathogenic Emery-Dreifuss muscular dystrophy 2, autosomal dominant
RS58058996 KRT5 Health Risk Pathogenic Epidermolysis bullosa simplex 2C, localized
RS58064122 GFAP Health Risk Pathogenic Alexander disease, GFAP-related disorder
RS58068378 ADGRG1 Health Risk Conflicting classifications of pathogenicity ADGRG1-related disorder, ADGRG1-related disorder
RS58072617 KRT5 Health Risk Pathogenic 7 conditions, Epidermolysis bullosa simplex
RS58075601 GFAP Health Risk Pathogenic Alexander disease, Alexander disease
RS58075662 KRT10 Health Risk Pathogenic Epidermolytic ichthyosis, KRT10-related disorder
RS58092713 SKIC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Trichohepatoenteric syndrome 2
RS58093963 ALMS1 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Alstrom syndrome
RS58094037 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS58100028 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS58105277 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
RS58106867 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS58107458 KRT5 Health Risk Likely pathogenic KRT5-related disorder, KRT5-related disorder
RS5811 SLC2A1 Health Risk Conflicting classifications of pathogenicity GLUT1 deficiency syndrome 1, autosomal recessive
RS58162394 KRT12 Health Risk Pathogenic Corneal dystrophy, Meesmann
RS58163069 KRT5 Health Risk Pathogenic Epidermolysis bullosa simplex 2B, generalized intermediate
RS5816579 PHKB Health Risk Conflicting classifications of pathogenicity —
RS5817153 CNOT1 Health Risk Conflicting classifications of pathogenicity CNOT1-related disorder, Holoprosencephaly 12 with or without pancreatic agenesis
RS58173258 CACNA1H Health Risk Conflicting classifications of pathogenicity Epilepsy, idiopathic generalized
RS58181827 KRT16 Health Risk Pathogenic Pachyonychia congenita 1, Pachyonychia congenita 1
RS58293603 KRT16 Health Risk Pathogenic/Likely pathogenic Pachyonychia congenita 1, Pachyonychia congenita 1
RS58327533 LMNA Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
RS58330629 KRT14 Health Risk Pathogenic Epidermolysis bullosa simplex 1A, generalized severe
RS58331765 ABCA4 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS58332872 NEFL Health Risk Pathogenic Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 2E
RS58343600 KRT12 Health Risk Pathogenic Corneal dystrophy, Meesmann
RS58344165 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Gastric cancer
RS58357841 KRT14 Health Risk Pathogenic Epidermolysis bullosa simplex 1A, generalized severe
RS58362413 LMNA Health Risk Pathogenic Dilated cardiomyopathy 1A, Dilated cardiomyopathy 1A
RS58365465 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS58368439 ABCC8 Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus, Hyperinsulinemic hypoglycemia
RS58373389 KRT1 Health Risk Pathogenic Ichthyosis hystrix of Curth-Macklin, Ichthyosis hystrix of Curth-Macklin
RS58380626 KRT14 Health Risk Pathogenic Epidermolysis bullosa simplex, Koebner type
RS58389804 LMNA Health Risk Pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS58393329 KRT14 Health Risk Pathogenic/Likely pathogenic Epidermolysis bullosa simplex 1C, localized
RS58409037 DES Health Risk Pathogenic Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS58410481 KRT12 Health Risk Pathogenic Corneal dystrophy, Meesmann
RS58414354 KRT10 Health Risk Pathogenic Epidermolytic hyperkeratosis 2A, autosomal dominant
RS58420087 KRT1 Health Risk Likely pathogenic Epidermolytic ichthyosis, Epidermolytic ichthyosis
RS58436778 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Emery-Dreifuss muscular dystrophy 2
RS584542 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS58480900 KRT5 Health Risk Pathogenic —
RS58528565 KMT2C Health Risk Conflicting classifications of pathogenicity Global developmental delay, Cerebellar atrophy
RS58528748 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Intractable seizure
RS58538724 DYNC2I1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 8 with or without polydactyly, DYNC2I1-related disorder
RS58539480 PLCE1 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 3
RS58541611 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS58556099 KRT6A Health Risk Pathogenic Pachyonychia congenita 3, Pachyonychia congenita 3
RS58559150 LRRK2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Parkinson disease 8, Autosomal dominant Parkinson disease 8
RS58560979 KRT14 Health Risk Pathogenic Epidermolysis bullosa simplex, Koebner type
RS58593315 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS58594334 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS58596362 LMNA Health Risk Pathogenic Hutchinson-Gilford syndrome, Primary dilated cardiomyopathy
RS58597457 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS58597584 KRT9 Health Risk Pathogenic Epidermolytic palmoplantar keratoderma, 1
RS58598099 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS58599399 PRPH Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis, susceptibility to
RS58606740 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease
RS58608173 KRT16 Health Risk Pathogenic Pachyonychia congenita 1, Pachyonychia congenita 1
RS58619430 KRT5 Health Risk Pathogenic —
RS58625281 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS58636477 DCAF17 Health Risk Conflicting classifications of pathogenicity Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome
RS58639322 ACADSB Health Risk Conflicting classifications of pathogenicity Deficiency of 2-methylbutyryl-CoA dehydrogenase, Inborn genetic diseases
RS58640772 NEFL Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease
RS58645163 KRT14 Health Risk Likely pathogenic 6 conditions, 6 conditions
RS58672172 LMNA Health Risk Conflicting classifications of pathogenicity Familial partial lipodystrophy, Dunnigan type
RS58682447 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS58683258 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS58687088 DES Health Risk Conflicting classifications of pathogenicity Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS58695352 ABCC6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS58729661 MAGEL2 Health Risk Conflicting classifications of pathogenicity Schaaf-Yang syndrome, Inborn genetic diseases
RS58730926 KRT17 Health Risk Pathogenic Steatocystoma multiplex, Pachyonychia congenita 2
RS58732244 GFAP Health Risk Pathogenic Alexander disease, Alexander disease
RS58740567 TRAPPC9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS58751565 KRT5 Health Risk Pathogenic Dowling-Degos disease 1, Dowling-Degos disease 1
RS587593493 SPRTN Health Risk Pathogenic Progeroid features-hepatocellular carcinoma predisposition syndrome, Progeroid features-hepatocellular carcinoma predisposition syndrome
RS587600563 GAS2L2 Health Risk Conflicting classifications of pathogenicity Ciliary dyskinesia, primary
RS587602874 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS587603096 HMGCS2 Health Risk Pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, Colon adenocarcinoma
RS587610159 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation
RS587612641 ADAMTSL4 Health Risk Conflicting classifications of pathogenicity Ectopia lentis 2, isolated
RS587615037 PHGDH Health Risk Pathogenic PHGDH deficiency, PHGDH deficiency
RS587621243 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS587621539 ZMYND10 Health Risk Pathogenic Primary ciliary dyskinesia, ZMYND10-related disorder
RS58762773 KRT14 Health Risk Pathogenic Epidermolysis bullosa simplex 1C, localized
RS587628683 HSD3B2 Health Risk Conflicting classifications of pathogenicity 3 beta-Hydroxysteroid dehydrogenase deficiency, Congenital adrenal hyperplasia
RS587636728 TSPEAR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, TSPEAR-related disorder
RS587638055 CTSK Health Risk Likely pathogenic —
RS587646422 HJV Health Risk Conflicting classifications of pathogenicity Hemochromatosis type 2A, Hemochromatosis type 2A
RS587650323 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder
RS587652739 ADAMTSL4 Health Risk Conflicting classifications of pathogenicity Ectopia lentis 2, isolated
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