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
RS1455560468 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS145556097 ADGRV1 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial
RS145556189 OTOF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145556619 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS1455568421 TECTA Health Risk Pathogenic/Likely pathogenic Autosomal dominant nonsyndromic hearing loss 12, Autosomal dominant nonsyndromic hearing loss 12
RS145557677 LRP4 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 17, Cenani-Lenz syndactyly syndrome
RS145558855 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS145558922 PCSK1 Health Risk Pathogenic Obesity due to prohormone convertase I deficiency, PCSK1-related disorder
RS145559167 SNRNP200 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1455597424 SLC26A4 Health Risk Pathogenic Pendred syndrome, Pendred syndrome
RS145560044 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1455606327 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS145560678 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiovascular phenotype
RS145560772 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS145560801 GHSR Health Risk Conflicting classifications of pathogenicity Short stature due to growth hormone secretagogue receptor deficiency, Short stature due to growth hormone secretagogue receptor deficiency
RS1455613910 BUB1B Health Risk Pathogenic Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1
RS145561881 ABCC9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS145562489 ANK1 Health Risk Conflicting classifications of pathogenicity Spherocytosis, Hereditary spherocytosis type 1
RS145562828 FBN3 Health Risk Conflicting classifications of pathogenicity —
RS145562987 CAD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145563233 OPA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145564018 GMPPB Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
RS145564868 MYH7 Health Risk Conflicting classifications of pathogenicity MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy
RS1455648880 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Malignant tumor of breast
RS145564988 APP Health Risk Likely pathogenic —
RS1455656088 IFT172 Health Risk Pathogenic/Likely pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS145565705 OPA1 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type), Inborn genetic diseases
RS1455665941 ZBTB20 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145566650 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder
RS145568166 KAT5 Health Risk Conflicting classifications of pathogenicity —
RS1455684210 GMPPA Health Risk Pathogenic —
RS145568435 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Episodic pain syndrome
RS145569015 NUP205 Health Risk Conflicting classifications of pathogenicity —
RS145569358 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS145569482 FAT4 Health Risk Conflicting classifications of pathogenicity —
RS145569563 PCGF2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1455698449 SGSH Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS145569846 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS145571020 ILK Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy
RS145571230 PALLD Health Risk Conflicting classifications of pathogenicity Pancreatic cancer, susceptibility to
RS145571817 KANK2 Health Risk Conflicting classifications of pathogenicity —
RS145571940 HPS6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145572983 CUL7 Health Risk Conflicting classifications of pathogenicity —
RS145573687 SON Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145574149 ACTG1 Health Risk Conflicting classifications of pathogenicity Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20
RS1455744375 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS1455758826 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS1455758932 SEC24D Health Risk Pathogenic —
RS145576966 NPAT Health Risk Conflicting classifications of pathogenicity —
RS1455774859 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS145577757 SZT2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Developmental and epileptic encephalopathy
RS1455778468 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS145577954 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS145577993 FAT2 Health Risk Conflicting classifications of pathogenicity —
RS145578059 NDUFS2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS1455785164 GNE Health Risk Likely pathogenic GNE myopathy, Thrombocytopenia 12 with or without myopathy
RS1455790542 WT1 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, 11p partial monosomy syndrome
RS145579121 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Inborn genetic diseases
RS145579135 CCM2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cerebral cavernous malformation 2
RS145580093 GALC Health Risk Pathogenic/Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS145580236 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS145580873 NSDHL Health Risk Conflicting classifications of pathogenicity CK syndrome, Child syndrome
RS145581345 TTN Health Risk Conflicting classifications of pathogenicity —
RS145581652 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS145581705 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS1455826354 REEP6 Health Risk Pathogenic —
RS1455826633 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 25
RS145582736 ABCA1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS145582772 FAT2 Health Risk Conflicting classifications of pathogenicity FAT2-related disorder, FAT2-related disorder
RS145583876 ACSF3 Health Risk Pathogenic/Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS1455848656 DIAPH1 Health Risk Conflicting classifications of pathogenicity Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1
RS145585334 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RAI1-related disorder
RS145586177 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS1455865276 HBA2 Health Risk Conflicting classifications of pathogenicity —
RS145586576 GNPTAB Health Risk Conflicting classifications of pathogenicity Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS145586647 AEBP1 Health Risk Likely pathogenic Autism spectrum disorder, Ehlers-Danlos syndrome
RS1455872989 DNASE1 Health Risk Conflicting classifications of pathogenicity —
RS1455874684 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1455879402 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS145588052 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Macular degeneration
RS145588516 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS145588542 KCNJ10 Health Risk Conflicting classifications of pathogenicity EAST syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS145588689 ADAR Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities
RS145588848 ROGDI Health Risk Conflicting classifications of pathogenicity Amelocerebrohypohidrotic syndrome, Amelocerebrohypohidrotic syndrome
RS145589304 CENPF Health Risk Conflicting classifications of pathogenicity CENPF-related disorder, CENPF-related disorder
RS145589784 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS1455899867 NEDD4L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1455903281 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS145590972 CCN6 Health Risk Conflicting classifications of pathogenicity Progressive pseudorheumatoid dysplasia, Inborn genetic diseases
RS1455910574 UNC80 Health Risk Likely pathogenic —
RS145591069 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, ITGB4-related disorder
RS145591298 CLDN19 Health Risk Likely pathogenic Nephrocalcinosis, Nephrolithiasis
RS145591492 PDE6C Health Risk Conflicting classifications of pathogenicity Achromatopsia, Cone dystrophy 4
RS1455927233 SCN1A Health Risk Pathogenic Early-infantile DEE, Severe myoclonic epilepsy in infancy
RS1455928001 NBN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS145592908 EPHA2 Health Risk Conflicting classifications of pathogenicity Cataract 6 multiple types, Cataract 6 multiple types
RS145592971 JUP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS1455937570 COL11A2 Health Risk Pathogenic —
RS145594158 LZTR1 Health Risk Pathogenic LZTR1-related schwannomatosis, Noonan syndrome 2
RS1455943416 HBA1 Health Risk Likely pathogenic alpha Thalassemia, Methemoglobinemia
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