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
RS775772074 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS775772574 OBSCN Health Risk risk factor Rhabdomyolysis, susceptibility to
RS775772721 A2ML1 Health Risk Conflicting classifications of pathogenicity —
RS775772867 PEX10 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, complementation group 7
RS775773057 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS775776080 IFT172 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS775776282 OTOA Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 22, Rare genetic deafness
RS775776288 MERTK Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 38
RS775776362 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS775776447 GNPAT Health Risk Conflicting classifications of pathogenicity —
RS775776506 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS775776658 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS775778545 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Inborn genetic diseases
RS775779700 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1
RS775780402 SETD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Luscan-Lumish syndrome
RS775783026 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS775785018 CBS Health Risk Conflicting classifications of pathogenicity Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS775786225 SERPINA1 Health Risk Pathogenic/Likely pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS775786295 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS775786809 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome
RS775788498 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 15, Primary ciliary dyskinesia
RS775788856 FTCD Health Risk Likely pathogenic Glutamate formiminotransferase deficiency, Glutamate formiminotransferase deficiency
RS775789293 SCN5A Health Risk Conflicting classifications of pathogenicity Sick sinus syndrome 1, Brugada syndrome 1
RS775789299 KCNA1 Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 1, Inborn genetic diseases
RS775789477 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS775790636 HADHB Health Risk Likely pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS775791299 BEST1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS775791516 ASS1 Health Risk Pathogenic Citrullinemia type I, Citrullinemia
RS775792241 FREM1 Health Risk Conflicting classifications of pathogenicity Oculotrichoanal syndrome, Trigonocephaly 2
RS775792432 MYO7A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS775793638 BCS1L Health Risk Conflicting classifications of pathogenicity GRACILE syndrome, Pili torti-deafness syndrome
RS775793810 CREB3L3 Health Risk Conflicting classifications of pathogenicity —
RS775793988 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS775794698 ACSF3 Health Risk Pathogenic/Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS775795557 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Baller-Gerold syndrome
RS775796581 CNGB3 Health Risk Pathogenic Abnormal electroretinogram, Nystagmus
RS775796646 RTTN Health Risk Pathogenic —
RS775797102 DPM1 Health Risk Conflicting classifications of pathogenicity Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E
RS775798185 RANBP2 Health Risk Conflicting classifications of pathogenicity —
RS775799529 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS775799559 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Inborn genetic diseases
RS775799617 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS775800782 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Shprintzen-Goldberg syndrome
RS775801045 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
RS775802030 WRN Health Risk Pathogenic/Likely pathogenic Werner syndrome, Werner syndrome
RS775803239 HCN4 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 8, Cardiovascular phenotype
RS775805131 SLC4A11 Health Risk Likely pathogenic —
RS775805709 ALK Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neuroblastoma
RS775807509 KCNT1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 14
RS775807962 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS775808138 MAX Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS775808731 DBT Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS775809722 PINK1 Health Risk Likely pathogenic Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
RS775810248 SP110 Health Risk Pathogenic Hepatic veno-occlusive disease-immunodeficiency syndrome, Hepatic veno-occlusive disease-immunodeficiency syndrome
RS775810281 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, 7 conditions
RS775810789 TRPM1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1C, Congenital stationary night blindness 1C
RS775811770 CEP250 Health Risk Pathogenic —
RS775814377 DIS3L2 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Perlman syndrome
RS775815297 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS775815329 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS775815605 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS775815898 SETD1B Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay
RS775816960 DNAAF1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS775817125 ZNFX1 Health Risk Pathogenic Immunodeficiency 91 and hyperinflammation, Immunodeficiency 91 and hyperinflammation
RS775817687 RPGR Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS775818894 EXOSC3 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS775819322 GRIN2A Health Risk Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS775819448 EIF2AK4 Health Risk Pathogenic Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis
RS775820803 SCN1A Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS775821591 C2 Health Risk Pathogenic —
RS775821966 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS775823265 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome
RS775825001 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS775825345 PCCA Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS775826449 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS775827012 ATP8B1 Health Risk Pathogenic/Likely pathogenic Cholestasis, intrahepatic
RS775827496 SLC3A1 Health Risk Pathogenic/Likely pathogenic Cystinuria, SLC3A1-related disorder
RS775827529 SDHA Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Mitochondrial complex II deficiency
RS775828379 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS775828835 GJB2 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1A
RS775829291 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS775830195 KISS1R Health Risk Pathogenic/Likely pathogenic Urogenital tract malformation, Urogenital tract malformation
RS775830396 MOCS1 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS775831317 DNAI1 Health Risk Likely pathogenic Primary ciliary dyskinesia, Kartagener syndrome
RS77583146 WNT10A Health Risk Conflicting classifications of pathogenicity Schöpf-Schulz-Passarge syndrome, Odonto-onycho-dermal dysplasia
RS775832077 PRKRA Health Risk Likely pathogenic Dystonia 16, Dystonia 16
RS775832137 HSD17B4 Health Risk Pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS775832239 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1
RS775833766 ECHS1 Health Risk Conflicting classifications of pathogenicity Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, ECHS1-related disorder
RS775833997 AGBL5 Health Risk Likely pathogenic —
RS775834401 SLC6A19 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775835429 SLC19A3 Health Risk Pathogenic/Likely pathogenic Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS775836288 NOTCH3 Health Risk Pathogenic Cerebral arteriopathy, autosomal dominant
RS775836730 TTC21B Health Risk Pathogenic/Likely pathogenic Type IV short rib polydactyly syndrome, Retinal dystrophy
RS775837092 ABCG8 Health Risk Conflicting classifications of pathogenicity Sitosterolemia 1, Cardiovascular phenotype
RS775837121 DNAAF3 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS775837423 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS775839180 IL17RA Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS775840176 C7 Health Risk Likely pathogenic —
RS775840914 SEMA3C Health Risk Conflicting classifications of pathogenicity —
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