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
RS758412337 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS758412400 HOGA1 Health Risk Pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS758412930 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder
RS758413354 SORL1 Health Risk Pathogenic —
RS758413374 AGXT Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria, type I
RS758413758 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS758414053 ALDH7A1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Pyridoxine-dependent epilepsy
RS758415465 P3H1 Health Risk Likely pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS758416485 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS758416830 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Zellweger spectrum disorders
RS758417150 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS758419331 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS758419553 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS758419783 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS758419807 PTPN23 Health Risk Pathogenic Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
RS758420618 COL4A1 Health Risk Likely pathogenic —
RS758420946 PLCE1 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 3
RS758422851 COPA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autoimmune interstitial lung disease-arthritis syndrome
RS758423821 FANCG Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group G
RS758426529 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS758427037 MVK Health Risk Conflicting classifications of pathogenicity Mevalonic aciduria, Porokeratosis 3
RS758428552 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS758428763 MPL Health Risk Pathogenic/Likely pathogenic MPL-related disorder, Congenital amegakaryocytic thrombocytopenia
RS758428843 COL11A1 Health Risk Conflicting classifications of pathogenicity COL11A1-related disorder, Inborn genetic diseases
RS758429613 EDA Health Risk Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS758430398 GALT Health Risk Pathogenic/Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS758431206 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS758431534 TAB2 Health Risk Conflicting classifications of pathogenicity —
RS758432113 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS758432190 NLRC4 Health Risk Conflicting classifications of pathogenicity Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Familial cold autoinflammatory syndrome 4
RS758432471 GNB1 Health Risk Pathogenic Seizure, Hypotonia
RS758432802 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS758434537 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS758435453 ANO6 Health Risk Conflicting classifications of pathogenicity —
RS758437499 OTOGL Health Risk Pathogenic/Likely pathogenic OTOGL-related disorder, OTOGL-related disorder
RS758437568 MSH3 Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 4, Hereditary cancer-predisposing syndrome
RS758437737 TRIP11 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IA
RS758437810 DOCK8 Health Risk Conflicting classifications of pathogenicity Hyper-IgE recurrent infection syndrome 3, autosomal recessive
RS758437844 TGM1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS758437925 POLR3B Health Risk Likely pathogenic Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
RS758437949 SYNE1 Health Risk Conflicting classifications of pathogenicity —
RS758438414 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS758439379 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS758439420 ERCC2 Health Risk Pathogenic Xeroderma pigmentosum, group D
RS75843969 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS758440368 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS758440592 AAAS Health Risk Likely pathogenic Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia
RS758442518 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS758442604 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS758442993 FN1 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type
RS758444182 COL4A3 Health Risk Pathogenic/Likely pathogenic Alport syndrome, Alport syndrome
RS758444909 SIX5 Health Risk Conflicting classifications of pathogenicity —
RS758445380 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome
RS75844637 COX10 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 1
RS758446922 NLRC5 Health Risk Conflicting classifications of pathogenicity —
RS758447354 CBS Health Risk Conflicting classifications of pathogenicity Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS758447515 GBA1 Health Risk Conflicting classifications of pathogenicity Gaucher disease, Gaucher disease type I
RS758447768 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Duchenne muscular dystrophy
RS758448998 SRPX2 Health Risk Conflicting classifications of pathogenicity Rolandic epilepsy, intellectual disability
RS758450569 CTSK Health Risk Pathogenic/Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS758451142 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS758452450 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Hurler syndrome
RS758452999 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS758453554 DCHS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758453646 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS758454311 MAGEL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Schaaf-Yang syndrome
RS758455611 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS758456073 WDR35 Health Risk Pathogenic —
RS758456319 SACS Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS758456559 NCOA6 Health Risk Conflicting classifications of pathogenicity —
RS758456856 CLCN7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758458216 C7 Health Risk Pathogenic —
RS758458467 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Myopathy
RS758459585 HEXB Health Risk Likely pathogenic Sandhoff disease, Sandhoff disease
RS758461304 RAC2 Health Risk Conflicting classifications of pathogenicity Neutrophil immunodeficiency syndrome, Neutrophil immunodeficiency syndrome
RS758461760 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS758462343 F12 Health Risk Conflicting classifications of pathogenicity Factor XII deficiency disease, Hereditary angioedema type 3
RS758462362 BBS9 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 9
RS758462532 TINF2 Health Risk Conflicting classifications of pathogenicity Revesz syndrome, Dyskeratosis congenita
RS758464032 FAH Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I
RS758464431 MYO15A Health Risk Pathogenic —
RS758464784 GPC3 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, Inborn genetic diseases
RS758465541 CEP57 Health Risk Conflicting classifications of pathogenicity Mosaic variegated aneuploidy syndrome 2, Inborn genetic diseases
RS758465730 INF2 Health Risk Conflicting classifications of pathogenicity Kidney disorder, Focal segmental glomerulosclerosis 5
RS758465935 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS758468167 HCN4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome 8
RS758470020 AFG3L2 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 28, Spinocerebellar ataxia type 28
RS758471372 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS758471869 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS758472054 UQCRC2 Health Risk Likely pathogenic —
RS758472207 LZTR1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 2, Cardiovascular phenotype
RS758472351 BLTP1 Health Risk Likely pathogenic —
RS758473342 AHDC1 Health Risk Conflicting classifications of pathogenicity —
RS758473430 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758474623 PHF6 Health Risk Likely pathogenic Borjeson-Forssman-Lehmann syndrome, Nonpapillary renal cell carcinoma
RS758475123 FANCD2 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS758475317 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS758476278 BAAT Health Risk Pathogenic Bile acid conjugation defect 1, Bile acid conjugation defect 1
RS758476299 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS758476981 USH2A Health Risk Likely pathogenic —
« Prev 1 ... 3332 3333 3334 3335 3336 3337 3338 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →