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
RS200373694 RRM2B Health Risk Conflicting classifications of pathogenicity RRM2B-related disorder, Mitochondrial DNA depletion syndrome 8a
RS200373703 SPART Health Risk Pathogenic Neurodevelopmental delay, Troyer syndrome
RS200373970 PSEN1 Health Risk Conflicting classifications of pathogenicity Alzheimer disease 3, Pick disease
RS200374196 MYOM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS200374202 NLRC4 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome
RS200374326 GALNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS200374384 PLXNA1 Health Risk Conflicting classifications of pathogenicity PLXNA1-related disorder, PLXNA1-related disorder
RS200374822 SMAD6 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 2, Craniosynostosis 7
RS200374987 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS200375017 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS200375156 SDHC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor
RS200375220 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Autosomal dominant cerebellar ataxia
RS200375589 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Mastocytosis
RS200375658 LOXHD1 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS200375710 TEX11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200375837 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS200376035 JAK3 Health Risk Conflicting classifications of pathogenicity T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS200376043 GP9 Health Risk Conflicting classifications of pathogenicity Bernard Soulier syndrome, Bernard Soulier syndrome
RS200377723 WHRN Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 31, Usher syndrome type 2D
RS200377748 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS200378113 ABCG5 Health Risk Conflicting classifications of pathogenicity Sitosterolemia, Cardiovascular phenotype
RS200378205 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS200378519 NLRP3 Health Risk Conflicting classifications of pathogenicity Cryopyrin associated periodic syndrome, Keratitis fugax hereditaria
RS200378555 FOXP1 Health Risk Conflicting classifications of pathogenicity —
RS200378626 FGA Health Risk Conflicting classifications of pathogenicity Congenital afibrinogenemia, Familial visceral amyloidosis
RS200378703 WDPCP Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 15, Bardet-Biedl syndrome
RS200378779 MYO5B Health Risk Conflicting classifications of pathogenicity MYO5B-related disorder, MYO5B-related disorder
RS200378865 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Early-onset myopathy with fatal cardiomyopathy
RS200378944 TTN Health Risk Conflicting classifications of pathogenicity TTN-related disorder, TTN-related disorder
RS200379491 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS200379694 CRB1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS200379895 GEMIN4 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with microcephaly, cataracts
RS200380522 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS200380831 RPA4 Health Risk Conflicting classifications of pathogenicity —
RS200380935 PLCE1 Health Risk Conflicting classifications of pathogenicity PLCE1-related disorder, PLCE1-related disorder
RS200381147 SPTB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200381392 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS200381634 ACOT1 Health Risk Conflicting classifications of pathogenicity —
RS200382161 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS200382504 CACNA1D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CACNA1D-related disorder
RS200382562 LMF1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS200382597 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS200382712 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2
RS200382742 TBX5 Health Risk Conflicting classifications of pathogenicity Holt-Oram syndrome, Aortic valve disease 2
RS200382776 RSPH1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 24
RS200382898 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS200382899 ITPR3 Health Risk Conflicting classifications of pathogenicity —
RS200382919 MYO7A Health Risk Conflicting classifications of pathogenicity —
RS200382943 MLC1 Health Risk Conflicting classifications of pathogenicity Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts
RS200382994 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 39, Retinal dystrophy
RS200383203 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS200383720 PRF1 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Inborn genetic diseases
RS200383755 GATA5 Health Risk Conflicting classifications of pathogenicity GATA5-related disorder, Congenital heart defects
RS200384040 MANBA Health Risk Likely pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS200384227 ARSI Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS200384355 TJP2 Health Risk Conflicting classifications of pathogenicity —
RS200384643 BIN1 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear
RS200384843 NDUFS4 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS200385034 CLCN1 Health Risk Conflicting classifications of pathogenicity Batten-Turner congenital myopathy, Congenital myotonia
RS200385399 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS200385504 WFS1 Health Risk Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders, Autosomal dominant nonsyndromic hearing loss 6
RS200385766 SKIC3 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 1, Trichohepatoenteric syndrome 1
RS200385882 SLC26A3 Health Risk Conflicting classifications of pathogenicity Congenital secretory diarrhea, chloride type
RS200385935 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS200385949 SPTB Health Risk Conflicting classifications of pathogenicity —
RS200386096 DIS3L2 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Perlman syndrome
RS200386134 FGFR2 Health Risk Conflicting classifications of pathogenicity Beare-Stevenson cutis gyrata syndrome, Crouzon syndrome
RS200386310 SPTB Health Risk Likely pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS200386687 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS200387466 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS200387635 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, VPS13A-related disorder
RS200387832 RDH12 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 13, Retinitis pigmentosa
RS200388263 USP18 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Pseudo-TORCH syndrome 2
RS200388651 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS200388926 BAG3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS200389141 BLM Health Risk Pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS200389505 PRPF8 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Inborn genetic diseases
RS200389686 LRP5 Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS200389929 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, ADGRV1-related disorder
RS200390354 DOCK6 Health Risk Conflicting classifications of pathogenicity DOCK6-related disorder, DOCK6-related disorder
RS200390529 ITGA7 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS200390697 BBS10 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS200390780 AR Health Risk Conflicting classifications of pathogenicity Androgen resistance syndrome, Kennedy disease
RS200390886 PAFAH1B1 Health Risk Likely pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS200390982 PGM1 Health Risk Conflicting classifications of pathogenicity PGM1-congenital disorder of glycosylation, PGM1-congenital disorder of glycosylation
RS200391019 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Abnormal intrahepatic bile duct morphology
RS200391083 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS200391162 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS200392167 DARS2 Health Risk Pathogenic/Likely pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
RS200392275 IRF3 Health Risk Conflicting classifications of pathogenicity —
RS200392452 GRIN2B Health Risk Likely pathogenic —
RS200392643 GPR179 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1E, Inborn genetic diseases
RS200392688 PRKAG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Lethal congenital glycogen storage disease of heart
RS200392821 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, ADGRV1-related disorder
RS200393300 LARP7 Health Risk Conflicting classifications of pathogenicity Microcephalic primordial dwarfism, Alazami type
RS200393557 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, KAT6B-related disorder
RS200393834 DOCK6 Health Risk Conflicting classifications of pathogenicity —
RS200394007 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS200394036 DIAPH1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
RS200394039 APOA1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
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