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
RS375813265 COL4A2 Health Risk Conflicting classifications of pathogenicity Porencephaly 2, Porencephaly 2
RS375813716 DVL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375813885 PROM1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal macular dystrophy type 2
RS375815319 MEI1 Health Risk Likely pathogenic —
RS375816870 SPTB Health Risk Conflicting classifications of pathogenicity SPTB-related disorder, SPTB-related disorder
RS375817528 CAPN1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive spastic paraplegia type 76, Autosomal recessive spastic paraplegia type 76
RS375817905 CEP290 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Nephronophthisis
RS375818733 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Brugada syndrome
RS375818821 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375819351 MYO18B Health Risk Pathogenic Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
RS375819512 CSF2RB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375819633 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Cardiovascular phenotype
RS375820067 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Inborn genetic diseases
RS375820273 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Hereditary spastic paraplegia 15
RS375820696 DNM2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate B
RS375821724 RRAS Health Risk Conflicting classifications of pathogenicity Noonan syndrome, RRAS-related disorder
RS375822204 ENPP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375822798 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS375823086 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS375824434 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS375824454 ERCC2 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group D
RS375824494 TMEM67 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Joubert syndrome
RS375824753 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS375826346 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS375826804 MTMR14 Health Risk Conflicting classifications of pathogenicity —
RS375827861 EXOSC3 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS375828467 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS375828592 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS375828897 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS375830234 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, Cardiovascular phenotype
RS375831680 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS375833070 KCNQ3 Health Risk Conflicting classifications of pathogenicity Benign neonatal seizures, Benign neonatal seizures
RS375833261 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS375833424 CYP11B1 Health Risk Pathogenic/Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, CYP11B1-related disorder
RS375833812 PLXNA1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder, PLXNA1-related disorder
RS375835104 JMJD1C Health Risk Conflicting classifications of pathogenicity Early myoclonic encephalopathy, Early myoclonic encephalopathy
RS375836361 GCKR Health Risk Conflicting classifications of pathogenicity FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5, FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5
RS375836575 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS375836805 CCN6 Health Risk Conflicting classifications of pathogenicity Progressive pseudorheumatoid dysplasia, Progressive pseudorheumatoid dysplasia
RS375836844 NPHP4 Health Risk Conflicting classifications of pathogenicity NPHP4-related disorder, Nephronophthisis
RS375837026 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Lymphangiomyomatosis
RS375837416 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS375838474 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS375839622 DNAH1 Health Risk Likely pathogenic Ciliary dyskinesia, primary
RS375839864 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Respiratory ciliopathies including non-CF bronchiectasis
RS375839872 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375842356 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiovascular phenotype
RS375842507 ATP8B1 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1
RS375843181 CFHR5 Health Risk Conflicting classifications of pathogenicity C3 glomerulonephritis, CFHR5 deficiency
RS375844056 PTCH2 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Basal cell nevus syndrome 1
RS3758442 MYO3A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 30, MYO3A-related disorder
RS375844934 GALNT12 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS375845215 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS375845310 B4GALT7 Health Risk Pathogenic Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome progeroid type
RS375845704 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS375846341 CBS Health Risk Pathogenic Homocystinuria, pyridoxine-responsive
RS375846390 TGFB3 Health Risk Conflicting classifications of pathogenicity —
RS375847104 ALDH4A1 Health Risk Conflicting classifications of pathogenicity Hyperprolinemia type 2, Hyperprolinemia type 2
RS375847990 IFT172 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly
RS375848544 CLUAP1 Health Risk Conflicting classifications of pathogenicity —
RS375848765 KCNJ11 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Type 2 diabetes mellitus
RS375848961 AP4E1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Spastic paraplegia
RS375849124 RTEL1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 5
RS375849292 ARID1A Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome, Coffin-Siris syndrome
RS375850397 DSG4 Health Risk Conflicting classifications of pathogenicity Hypotrichosis 6, Hypotrichosis 6
RS375851346 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS375852759 POLE Health Risk Conflicting classifications of pathogenicity POLE-related disorder, POLE-related disorder
RS375852855 RANBP2 Health Risk Conflicting classifications of pathogenicity Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy
RS375852982 NFASC Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with central and peripheral motor dysfunction, NFASC-related disorder
RS375853155 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS375853744 PJVK Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 59, Autosomal recessive nonsyndromic hearing loss 59
RS375854730 ASL Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS375855445 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1F, Usher syndrome type 1F
RS375855688 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS375857496 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS375857763 TRIOBP Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 28, Autosomal recessive nonsyndromic hearing loss 28
RS375858093 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS375859404 RPGRIP1 Health Risk Pathogenic Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS375859889 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS375860783 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Inborn genetic diseases
RS375860866 PDHX Health Risk Likely pathogenic —
RS375861433 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, NPHS1-related disorder
RS375862387 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS375862497 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS375862750 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS375863465 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Ovarian serous cystadenocarcinoma
RS375865107 FMN2 Health Risk Likely pathogenic —
RS375865167 LPIN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375867140 ELN Health Risk Conflicting classifications of pathogenicity Supravalvar aortic stenosis, ELN-related disorder
RS375867319 GALC Health Risk Pathogenic/Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS375867377 ANO5 Health Risk Likely pathogenic Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS375870003 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS375870998 OBSL1 Health Risk Conflicting classifications of pathogenicity 3M syndrome 2, 3M syndrome 2
RS375873637 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS375874539 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS375875022 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS375875187 CNGA2 Health Risk Conflicting classifications of pathogenicity —
RS375876245 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375876545 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS375876618 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
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