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
RS766969458 GGCX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766969559 LOX Health Risk Pathogenic Aortic aneurysm, familial thoracic 10
RS766969718 OTOGL Health Risk Pathogenic —
RS766970197 GRIN2B Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 27
RS766970263 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS766970458 CYP2U1 Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS766971906 OTOGL Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS766973191 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS766973462 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS766975615 CAD Health Risk Pathogenic —
RS766977148 LONP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CODAS syndrome
RS766977775 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS766978225 SPINK5 Health Risk Pathogenic/Likely pathogenic Netherton syndrome, Ichthyosis linearis circumflexa
RS766980170 SGSH Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS766980240 ERCC6 Health Risk Pathogenic/Likely pathogenic Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME
RS766980859 MOCS1 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS766981518 SLC7A9 Health Risk Likely pathogenic Cystinuria, Cystinuria
RS766981672 TCOF1 Health Risk Conflicting classifications of pathogenicity Treacher Collins syndrome 1, Inborn genetic diseases
RS766981777 CTNS Health Risk Pathogenic Nephropathic cystinosis, Ocular cystinosis
RS766982731 NEK10 Health Risk Pathogenic Ciliary dyskinesia, primary
RS766983961 EPG5 Health Risk Conflicting classifications of pathogenicity Vici syndrome, Inborn genetic diseases
RS766984518 PMM2 Health Risk Conflicting classifications of pathogenicity PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS766984722 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS766985428 GABRD Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Idiopathic generalized epilepsy
RS766986213 IFT74 Health Risk Likely pathogenic IFT74-related disorder, IFT74-related disorder
RS766987038 GREB1L Health Risk association Renal agenesis and hypodysplasia, Renal agenesis and hypodysplasia
RS766988509 LRP5 Health Risk Conflicting classifications of pathogenicity —
RS766989154 KAT6B Health Risk Conflicting classifications of pathogenicity Intellectual disability, Genitopatellar syndrome
RS766989857 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS766989894 CRB1 Health Risk Likely pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS766990565 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS766991003 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS766991551 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766992720 HFE Health Risk Likely pathogenic Hemochromatosis type 1, Hemochromatosis type 1
RS766993216 PKD1L1 Health Risk Pathogenic —
RS766993798 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS766994696 ANO5 Health Risk Pathogenic Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS766996625 TYR Health Risk Pathogenic —
RS766996744 ASXL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766997264 MSH3 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS766999202 AHDC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766999669 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS766999822 MMUT Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS767000285 TRRAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767000507 ISCU Health Risk Pathogenic Hereditary myopathy with lactic acidosis due to ISCU deficiency, Hereditary myopathy with lactic acidosis due to ISCU deficiency
RS767000559 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS767000671 GRIN1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS767000881 CLCN1 Health Risk Pathogenic/Likely pathogenic Congenital myotonia, autosomal recessive form
RS767001525 FBN3 Health Risk Conflicting classifications of pathogenicity —
RS767002915 RP1L1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS767003400 TYR Health Risk Pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
RS767003564 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS767003567 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS767003671 ADSS1 Health Risk Likely pathogenic —
RS767004691 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS767004810 TBCE Health Risk Pathogenic/Likely pathogenic Hypoparathyroidism-retardation-dysmorphism syndrome, Autosomal recessive Kenny-Caffey syndrome
RS767004984 CPT2 Health Risk Pathogenic Carnitine palmitoyl transferase II deficiency, myopathic form
RS767005321 BBS9 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Retinal dystrophy
RS767006508 HTRA2 Health Risk Pathogenic 3-methylglutaconic aciduria type 8, 3-methylglutaconic aciduria type 8
RS767006697 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS767006704 PDE6B Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS767007361 VPS13C Health Risk Pathogenic —
RS767009501 CDH3 Health Risk Pathogenic —
RS767011440 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS767011515 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS767011524 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS767011628 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS767012109 DHODH Health Risk Conflicting classifications of pathogenicity Miller syndrome, Inborn genetic diseases
RS767012332 P3H2 Health Risk Pathogenic —
RS767012387 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS767012535 ALS2 Health Risk Conflicting classifications of pathogenicity Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis
RS767017783 RORB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767018622 RPGRIP1L Health Risk Likely pathogenic Joubert syndrome, Joubert syndrome
RS767019228 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS767019430 MADD Health Risk Conflicting classifications of pathogenicity MADD-related disorder, MADD-related disorder
RS767020833 TECPR1 Health Risk Likely pathogenic Esophageal atresia/tracheoesophageal fistula, Esophageal atresia/tracheoesophageal fistula
RS767021188 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS767021397 DNM1L Health Risk Conflicting classifications of pathogenicity —
RS76702162 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS767023297 CHD8 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with autism and macrocephaly, Inborn genetic diseases
RS767023414 MED17 Health Risk Likely pathogenic Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly, Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
RS767023578 ROGDI Health Risk Conflicting classifications of pathogenicity Amelocerebrohypohidrotic syndrome, Amelocerebrohypohidrotic syndrome
RS767023791 CASQ2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS767024102 CYP2U1 Health Risk Pathogenic Hereditary spastic paraplegia 56, Spastic paraplegia
RS767024374 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS767024764 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS767025385 STAG2 Health Risk Likely pathogenic STAG2-related disorder, Thyroid cancer
RS767025617 NAA60 Health Risk Pathogenic Basal ganglia calcification, idiopathic
RS767027334 LPL Health Risk Pathogenic —
RS767028461 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS767028531 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS767029163 NALCN Health Risk Pathogenic —
RS767030473 TULP1 Health Risk Pathogenic Leber congenital amaurosis 15, Leber congenital amaurosis 15
RS767031102 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS767032012 TYROBP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767032589 ALS2 Health Risk Pathogenic Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis
RS767033703 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS767036273 CBS Health Risk Likely pathogenic Classic homocystinuria, Classic homocystinuria
RS767036519 SLC24A1 Health Risk Pathogenic —
RS767036698 COL7A1 Health Risk Conflicting classifications of pathogenicity Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
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