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
RS376900429 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Febrile seizures
RS376901032 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS376901405 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease
RS376902057 POLR1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376902371 TOP3A Health Risk Pathogenic Mitochondrial disease, Progressive external ophthalmoplegia with mitochondrial DNA deletions
RS376902925 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS376903098 HLCS Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Inborn genetic diseases
RS376903331 DNAH8 Health Risk Likely pathogenic Primary ciliary dyskinesia, Spermatogenic failure 46
RS376904160 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS376904276 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS376905344 MYO15A Health Risk Conflicting classifications of pathogenicity —
RS376905666 DLL3 Health Risk Conflicting classifications of pathogenicity Syndactyly, Spondylocostal dysostosis 1
RS376906761 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases
RS376907606 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3
RS376907937 SOX10 Health Risk Conflicting classifications of pathogenicity Waardenburg syndrome, PCWH syndrome
RS376908088 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS376908183 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS376908332 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS376908568 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS376909494 PDE6A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS376909620 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS376909665 CRPPA Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS376909913 LRP4 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 17, Sclerosteosis 2
RS376910589 SLC39A8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SLC39A8-related disorder
RS376910635 CLN8 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS376910645 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS376911077 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS376911583 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS376911979 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 15, Primary ciliary dyskinesia
RS376912534 NIPBL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cornelia de Lange syndrome 1
RS376912950 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS376913055 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS376914472 NSF Health Risk Conflicting classifications of pathogenicity —
RS376914657 TICAM1 Health Risk Conflicting classifications of pathogenicity Herpes simplex encephalitis, susceptibility to
RS3769148 MAP3K20 Health Risk Pathogenic Split-foot malformation-mesoaxial polydactyly syndrome, Split-foot malformation-mesoaxial polydactyly syndrome
RS376915313 ATP2A1 Health Risk Conflicting classifications of pathogenicity Brody myopathy, ATP2A1-related disorder
RS376916591 AP5Z1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hereditary spastic paraplegia 48
RS376916741 CBS Health Risk Pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS376917645 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, ALDH7A1-related disorder
RS376918337 SYNE1 Health Risk Conflicting classifications of pathogenicity —
RS376919554 COL18A1 Health Risk Conflicting classifications of pathogenicity Knobloch syndrome, Knobloch syndrome
RS376919650 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS376919678 DDR2 Health Risk Conflicting classifications of pathogenicity Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
RS376920171 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS376920234 DLGAP2 Health Risk Conflicting classifications of pathogenicity —
RS376920607 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376921379 UROD Health Risk Pathogenic —
RS376921497 KCNJ2 Health Risk Conflicting classifications of pathogenicity Short QT syndrome type 3, Andersen Tawil syndrome
RS376921740 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS376922544 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS376922615 CDH1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS376923069 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Cardiovascular phenotype
RS376923206 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS376923220 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS376923877 TNNT2 Health Risk Likely pathogenic Cardiomyopathy, Dilated cardiomyopathy 1D
RS376926165 SON Health Risk Conflicting classifications of pathogenicity ZTTK syndrome, ZTTK syndrome
RS376926391 ABCB4 Health Risk Pathogenic ABCB4-related disorder, ABCB4-related disorder
RS376927135 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS376927238 MTHFR Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS376927252 ECM1 Health Risk Conflicting classifications of pathogenicity Thyroid cancer, nonmedullary
RS376927687 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS376927697 ALG3 Health Risk Pathogenic ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation
RS376929592 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS376929779 HSPG2 Health Risk Conflicting classifications of pathogenicity —
RS376930907 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS376931030 ANK3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376931156 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS376932915 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
RS376933421 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS376934090 PIGN Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS376934533 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS376934539 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS376934727 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS376935348 GYS2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disorder due to hepatic glycogen synthase deficiency, Inborn genetic diseases
RS376935647 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS376936740 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS376938303 LAMA5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Colon adenocarcinoma
RS376939353 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS376939609 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS376940505 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Sarcoma
RS376941115 MAX Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS376942948 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS376943614 ZMYND11 Health Risk Pathogenic Intellectual disability, autosomal dominant 30
RS376944136 SRD5A3 Health Risk Conflicting classifications of pathogenicity SRD5A3-congenital disorder of glycosylation, SRD5A3-congenital disorder of glycosylation
RS376944331 KCTD7 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 3, Progressive myoclonic epilepsy type 3
RS376945520 PCSK9 Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS376946722 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS376946966 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS376946970 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS376947008 ABCA4 Health Risk Likely pathogenic Cone-rod dystrophy 3, Cone-rod dystrophy 3
RS376947064 TBCD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376948469 MLYCD Health Risk Conflicting classifications of pathogenicity Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS376948691 GHRHR Health Risk Pathogenic Isolated growth hormone deficiency, type 4
RS376950447 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS376950905 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Long QT syndrome
RS376951269 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376952695 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS376952748 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Autoinflammatory syndrome
RS376952965 PYCR2 Health Risk Conflicting classifications of pathogenicity —
RS376955913 TFR2 Health Risk Conflicting classifications of pathogenicity Hereditary hemochromatosis, Hemochromatosis type 3
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