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
RS774374213 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS774374347 TNRC6B Health Risk Pathogenic Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities
RS774374625 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS774375168 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS774375880 TSFM Health Risk Pathogenic —
RS774375940 SCN3A Health Risk Conflicting classifications of pathogenicity SCN3A-related disorder, Inborn genetic diseases
RS774376104 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS774378608 ADGRV1 Health Risk Pathogenic —
RS774378991 TMEM126B Health Risk Likely pathogenic —
RS774379297 TRPM1 Health Risk Pathogenic —
RS774380450 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS774380711 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS774381540 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS774383633 TRIM37 Health Risk Conflicting classifications of pathogenicity Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS774384587 LARGE1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy type B6, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS774385716 PCSK9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS774386059 ADGRV1 Health Risk Likely pathogenic Usher syndrome type 2C, Usher syndrome type 2C
RS774386413 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS774386869 PHYH Health Risk Likely pathogenic Phytanic acid storage disease, Phytanic acid storage disease
RS774387771 MYH9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774387920 ETFB Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS774388179 CDK5RAP2 Health Risk Pathogenic Microcephaly 3, primary
RS774388320 VCL Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS774388410 GP1BA Health Risk Pathogenic Bernard Soulier syndrome, Bernard Soulier syndrome
RS774388631 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS774389618 ACVRL1 Health Risk Pathogenic/Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS774391206 CARD9 Health Risk Conflicting classifications of pathogenicity Predisposition to invasive fungal disease due to CARD9 deficiency, CARD9-related disorder
RS774391397 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS774392481 ELP4;PAX6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant keratitis, Foveal hypoplasia 1
RS774392592 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS774392615 ASL Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS774392894 ERCC2 Health Risk Conflicting classifications of pathogenicity Cerebrooculofacioskeletal syndrome 2, Xeroderma pigmentosum
RS774393174 TNC Health Risk Conflicting classifications of pathogenicity —
RS774393243 GUSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS774393276 CCNO Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS77439349 ADCY5 Health Risk Conflicting classifications of pathogenicity Dyskinesia with orofacial involvement, autosomal dominant
RS774395087 ABCG8 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS774395395 TTN Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS774395829 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS774395991 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS774395996 COQ4 Health Risk Pathogenic Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
RS774396176 ETV6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774396430 CLCN1 Health Risk Pathogenic/Likely pathogenic Congenital myotonia, autosomal dominant form
RS774397209 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS774398710 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS774400247 RTEL1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 5
RS774401267 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS774402454 DYSF Health Risk Pathogenic/Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS774402582 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS774403667 KIF7 Health Risk Pathogenic Acrocallosal syndrome, KIF7-related disorder
RS774403945 KMT2D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Kabuki syndrome 1
RS774405472 SI Health Risk Likely pathogenic SI-related disorder, SI-related disorder
RS774405964 SKIC3 Health Risk Pathogenic Trichohepatoenteric syndrome, Trichohepatoenteric syndrome
RS774406266 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS774406736 LOX Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS77440690 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 2, Transient Neonatal Diabetes
RS774407963 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS774410421 CEP290 Health Risk Pathogenic Encephalocele, Severe hydrocephalus
RS774410891 SLC24A1 Health Risk Pathogenic —
RS774410925 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS774411234 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS774411587 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS774411642 GBA2 Health Risk Pathogenic —
RS774411820 ABCB11 Health Risk Likely pathogenic Progressive familial intrahepatic cholestasis type 2, ABCB11-related disorder
RS774412117 POMT2 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS774413686 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-Related Spectrum Disorders
RS774414270 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS774414684 KARS1 Health Risk Conflicting classifications of pathogenicity —
RS774415631 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS774416016 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia of anesthesia, Hypokalemic periodic paralysis
RS774416029 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS774416127 WFS1 Health Risk Likely pathogenic Wolfram syndrome 1, Autosomal dominant nonsyndromic hearing loss 6
RS774416906 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774418317 ACAT1 Health Risk Pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS774419037 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Intellectual disability
RS774419538 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS774419666 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS774419705 GPI Health Risk Pathogenic/Likely pathogenic Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
RS774419889 POLA1 Health Risk Likely pathogenic X-linked intellectual disability, van Esch type
RS774421754 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS774422392 CYP21A2 Health Risk Conflicting classifications of pathogenicity —
RS774423206 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS774424161 KCNJ2 Health Risk Conflicting classifications of pathogenicity Andersen Tawil syndrome, Short QT syndrome type 3
RS774425025 IFT80 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2
RS774425075 PNPT1 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 13, Combined oxidative phosphorylation defect type 13
RS774425374 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS774425403 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS774425831 ADSS1 Health Risk Likely pathogenic Myopathy, distal
RS774427164 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS774428333 COL6A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Bethlem myopathy 1A
RS774428356 RP1 Health Risk Pathogenic —
RS774429348 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS77442996 KCNE1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 5
RS774430587 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS774430982 AMH Health Risk Pathogenic —
RS774431464 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Idiopathic hypereosinophilic syndrome
RS774431958 TUBA8 Health Risk Conflicting classifications of pathogenicity —
RS774432060 MED13L Health Risk Conflicting classifications of pathogenicity Dextro-looped transposition of the great arteries, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS774432244 CYP24A1 Health Risk Pathogenic/Likely pathogenic Hypercalcemia, infantile
RS774433839 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
« Prev 1 ... 3591 3592 3593 3594 3595 3596 3597 ... 4509 Next »

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

Get Started Free →