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
RS575419120 POLE Health Risk Conflicting classifications of pathogenicity —
RS575421836 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS575433349 FGA Health Risk Pathogenic —
RS575434109 FLNB Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Inborn genetic diseases
RS575438591 MAPK8IP3 Health Risk Conflicting classifications of pathogenicity —
RS575446156 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Central core myopathy
RS575453437 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Stargardt disease 3
RS575453513 GJB2 Health Risk Pathogenic/Likely pathogenic Nonsyndromic genetic hearing loss, 7 conditions
RS575462405 NDUFAF6 Health Risk Conflicting classifications of pathogenicity Fanconi renotubular syndrome 5, Mitochondrial disease
RS575463891 TRMU Health Risk Conflicting classifications of pathogenicity —
RS575472572 RNU4ATAC Health Risk Conflicting classifications of pathogenicity Osteodysplastic primordial dwarfism, type 1
RS575482829 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS575485883 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS575491117 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS575492335 HERC2 Health Risk Pathogenic/Likely pathogenic Developmental delay with autism spectrum disorder and gait instability, Prader-Willi syndrome
RS575493003 VANGL1 Health Risk Conflicting classifications of pathogenicity Neural tube defect, Sacral defect with anterior meningocele
RS575499078 TMEM67 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS575505383 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS575510858 C6 Health Risk Likely pathogenic —
RS575513935 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS575521131 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Acute febrile neutrophilic dermatosis
RS575528363 GGCX Health Risk Pathogenic Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency, Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
RS575528695 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS575544204 GNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-D
RS575546518 MYO15A Health Risk Conflicting classifications of pathogenicity —
RS575554223 SCN1A Health Risk Conflicting classifications of pathogenicity Generalized epilepsy with febrile seizures plus, type 2
RS575556076 MYO18B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS575558175 MPV17 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
RS575575729 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Recessive dystrophic epidermolysis bullosa
RS575582638 HNRNPU Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 54
RS575583988 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Timothy syndrome
RS575593821 GJA1 Health Risk Conflicting classifications of pathogenicity Hypoplastic left heart syndrome 1, Oculodentodigital dysplasia
RS575594491 ASH1L Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 52
RS575595017 BRIP1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS575601110 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B
RS575601185 CARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 27, CARS2-related disorder
RS575602255 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Inborn genetic diseases
RS575604496 DNAJB6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
RS575606060 ZFP57 Health Risk Conflicting classifications of pathogenicity ZFP57-related disorder, Inborn genetic diseases
RS575633576 TRIM32 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 11, Sarcotubular myopathy
RS575639886 PDE6B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2
RS575642464 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, Atypical behavior
RS575644902 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS575649250 DLC1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, Colorectal cancer
RS575655181 SLC4A1 Health Risk Likely pathogenic Autosomal dominant distal renal tubular acidosis, Autosomal dominant distal renal tubular acidosis
RS575660501 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder
RS575667885 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS575668968 STX3 Health Risk Pathogenic Diarrhea 12, with microvillus atrophy
RS575676072 CRB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CRB2-related disorder
RS575678322 IFIH1 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS575678784 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Acute febrile neutrophilic dermatosis
RS575697663 CCDC88C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS575710648 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS575714670 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS575715969 NAA15 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS575720246 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS575724078 APC Health Risk Conflicting classifications of pathogenicity APC-Associated Polyposis Disorders, Hereditary cancer-predisposing syndrome
RS575727793 CTSC Health Risk Conflicting classifications of pathogenicity Haim-Munk syndrome, Periodontitis
RS575728230 GSS Health Risk Conflicting classifications of pathogenicity Inherited glutathione synthetase deficiency, Glutathione synthetase deficiency without 5-oxoprolinuria
RS575729461 MYO5B Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS575738148 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS575767207 CEP290 Health Risk Pathogenic Joubert syndrome 5, Leber congenital amaurosis 10
RS575773932 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS575775297 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS575778537 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Wolfram-like syndrome
RS575779520 KANK1 Health Risk Conflicting classifications of pathogenicity Cerebral palsy, spastic quadriplegic
RS575786108 ABCA12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS575787457 BTD Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS575789958 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, ACADVL-related disorder
RS575792064 PLEKHG5 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS575806482 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS575812929 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS575813993 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS575814709 SCN3A Health Risk Conflicting classifications of pathogenicity —
RS575820215 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ZNF469-related disorder
RS575822089 TBCK Health Risk Pathogenic Hypotonia, infantile
RS575839041 OAT Health Risk Conflicting classifications of pathogenicity Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS575840341 COLQ Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS575851831 NRCAM Health Risk Likely pathogenic NRCAM-related disorder, NRCAM-related disorder
RS575851859 WFS1 Health Risk Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders, Autosomal dominant nonsyndromic hearing loss 6
RS575854370 ZNF469 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Brittle cornea syndrome 1
RS575854668 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS575855434 FLG Health Risk Likely pathogenic Ichthyosis vulgaris, Ichthyosis vulgaris
RS575862721 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Luscan-Lumish syndrome
RS575864379 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS575867273 RGR Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS575873653 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS575875557 CATSPER1 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 7, CATSPER1-related disorder
RS575895733 EXT1 Health Risk Conflicting classifications of pathogenicity Multiple congenital exostosis, Exostoses
RS575898161 FOXN1 Health Risk Conflicting classifications of pathogenicity T-cell immunodeficiency, congenital alopecia
RS575899061 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1
RS575900032 SPAST Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS575905950 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS575909585 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS57590980 GFAP Health Risk Pathogenic Alexander disease, Alexander disease
RS575910805 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS575913104 ALOXE3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 3, ALOXE3-related disorder
RS575919892 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS575920691 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS575921074 ATP8B1 Health Risk Conflicting classifications of pathogenicity —
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