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
RS138249576 XDH Health Risk Conflicting classifications of pathogenicity Xanthinuria type II, XDH-related disorder
RS138249970 PNKP Health Risk Pathogenic Developmental and epileptic encephalopathy, 12
RS1382504729 MED17 Health Risk Pathogenic —
RS138251107 TONSL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138251566 LDB3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS1382516356 MBD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1382517876 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS138254005 NPR2 Health Risk Conflicting classifications of pathogenicity Acromesomelic dysplasia 1, Maroteaux type
RS138254713 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Sarcoglycanopathy
RS138254725 CLIC5 Health Risk Conflicting classifications of pathogenicity —
RS138254872 ARID1B Health Risk Pathogenic ARID1B-related BAFopathy, ARID1B-related BAFopathy
RS1382549860 FOXP3 Health Risk Conflicting classifications of pathogenicity Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
RS138255012 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 25
RS138255134 DDB2 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group E
RS138256149 POLR1D Health Risk Conflicting classifications of pathogenicity Treacher Collins syndrome 2, Treacher Collins syndrome 2
RS1382566648 TTC21B Health Risk Likely pathogenic Jeune thoracic dystrophy, Nephronophthisis
RS138256927 PKD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PKD1-related disorder
RS138258055 GRIP1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 3, Fraser syndrome 3
RS138259179 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS138259457 GABRA1 Health Risk Conflicting classifications of pathogenicity Epilepsy, idiopathic generalized
RS138259479 AMT Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, AMT-related disorder
RS138259600 MECR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138259992 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1382601981 LONP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1382610511 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS1382612689 STAT1 Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS138261889 PYCR1 Health Risk Conflicting classifications of pathogenicity Cutis laxa, Cutis laxa
RS138262189 SLC4A11 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome
RS138262219 TGFBR2 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS138262940 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS138263686 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138263703 TNPO3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F
RS138264216 ACAD9 Health Risk Conflicting classifications of pathogenicity Acyl-CoA dehydrogenase 9 deficiency, Inborn genetic diseases
RS138264225 LRRK2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Parkinson disease 8, Inborn genetic diseases
RS1382652919 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS138265409 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS1382654122 GUSB Health Risk Pathogenic —
RS138265497 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS1382656148 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS138265837 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS138266625 LAMC2 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, LAMC2-related disorder
RS138266806 ALG12 Health Risk Conflicting classifications of pathogenicity ALG12-congenital disorder of glycosylation, Inborn genetic diseases
RS138266832 COL4A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS138267130 KRT85 Health Risk Conflicting classifications of pathogenicity —
RS138267158 COL4A6 Health Risk Conflicting classifications of pathogenicity COL4A6-related disorder, COL4A6-related disorder
RS138268837 DYSF Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1382689372 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS138268998 RIPK4 Health Risk Conflicting classifications of pathogenicity Bartsocas-Papas syndrome 1, Bartsocas-Papas syndrome 1
RS138269127 PRPF31 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, PRPF31-related disorder
RS138269346 COL4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Inborn genetic diseases
RS138269726 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Intellectual disability
RS138270050 MYH9 Health Risk Conflicting classifications of pathogenicity —
RS1382701532 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS1382701569 RARS2 Health Risk Likely pathogenic —
RS138270433 CTNS Health Risk Conflicting classifications of pathogenicity Ocular cystinosis, Nephropathic cystinosis
RS1382705855 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1382707981 UNC80 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138271058 EXPH5 Health Risk Conflicting classifications of pathogenicity —
RS1382711328 CEP152 Health Risk Conflicting classifications of pathogenicity —
RS138272061 MAMLD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138272112 ECEL1 Health Risk Conflicting classifications of pathogenicity ECEL1-related disorder, ECEL1-related disorder
RS138273094 SHANK1 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1382733866 NOTCH2 Health Risk Likely pathogenic Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS1382734231 FLNC Health Risk Conflicting classifications of pathogenicity Restrictive cardiomyopathy, Myofibrillar myopathy 5
RS138273800 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS138274069 ATOH7 Health Risk Pathogenic Foveal hypoplasia, Optic nerve hypoplasia
RS138274272 CFAP43 Health Risk Conflicting classifications of pathogenicity —
RS1382743269 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS138274440 SARS2 Health Risk Conflicting classifications of pathogenicity Hyperuricemia, pulmonary hypertension
RS138274490 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Spermatogenic failure 28
RS138274547 PDE6A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 43
RS1382747435 MBOAT7 Health Risk Pathogenic —
RS138275059 NDUFAF3 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 18
RS138275098 FAT4 Health Risk Conflicting classifications of pathogenicity FAT4-related disorder, Colorectal cancer
RS1382752324 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1382756452 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138276021 WIPF1 Health Risk Conflicting classifications of pathogenicity Wiskott-Aldrich syndrome 2, Inborn genetic diseases
RS138276286 PLXNA1 Health Risk Conflicting classifications of pathogenicity PLXNA1-related disorder, PLXNA1-related disorder
RS138276378 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS138277154 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS138277885 EPS8L2 Health Risk Conflicting classifications of pathogenicity EPS8L2-related disorder, EPS8L2-related disorder
RS138277996 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS138278747 RECQL Health Risk Conflicting classifications of pathogenicity Hereditary cancer, RECQL-related disorder
RS1382787497 TPO Health Risk Likely pathogenic Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS138279396 SPTB Health Risk Conflicting classifications of pathogenicity —
RS138279913 CPA6 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial
RS138280089 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Hypertrichotic osteochondrodysplasia Cantu type
RS138281308 MC4R Health Risk Conflicting classifications of pathogenicity Obesity, Monogenic diabetes
RS138281601 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS1382819519 BCL11A Health Risk Likely pathogenic Dias-Logan syndrome, Dias-Logan syndrome
RS1382823339 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS138282349 KCNT1 Health Risk Conflicting classifications of pathogenicity Self-limited epilepsy with centrotemporal spikes, Developmental and epileptic encephalopathy
RS1382829987 TWNK Health Risk Pathogenic/Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
RS1382832060 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS1382838576 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS138285547 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS138287354 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Intellectual disability
RS1382875512 GLI3 Health Risk Likely pathogenic GLI3-related disorder, GLI3-related disorder
RS138287857 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Colorectal cancer
RS138287942 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
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