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
RS780877716 NRL Health Risk Pathogenic —
RS780879476 LIG4 Health Risk Pathogenic Inborn genetic diseases, DNA ligase IV deficiency
RS780879621 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS780880323 MID1 Health Risk Conflicting classifications of pathogenicity X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome
RS780880330 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS780880496 SPINT2 Health Risk Pathogenic Congenital secretory sodium diarrhea 3, Congenital secretory sodium diarrhea 3
RS780880602 PACS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780882080 RAPSN Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11
RS780882740 INPP5E Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome 1
RS780883601 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS780883873 STUB1 Health Risk Likely pathogenic Spinocerebellar ataxia 48, Spinocerebellar ataxia 48
RS780884476 MAP3K14 Health Risk Conflicting classifications of pathogenicity NIK deficiency, NIK deficiency
RS780884637 DLD Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E3 deficiency, Inborn genetic diseases
RS780885506 SOX5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Lamb-Shaffer syndrome
RS780885595 TRPS1 Health Risk Conflicting classifications of pathogenicity Trichorhinophalangeal syndrome, type III
RS780885921 PHKB Health Risk Likely pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS780886030 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS780886475 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3
RS780886772 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS780887287 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS780887410 ACOX1 Health Risk Conflicting classifications of pathogenicity Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
RS780887572 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS780887609 HELLS Health Risk Conflicting classifications of pathogenicity Immunodeficiency-centromeric instability-facial anomalies syndrome 4, Immunodeficiency-centromeric instability-facial anomalies syndrome 4
RS780888701 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS780888941 CEP164 Health Risk Likely pathogenic Nephronophthisis 15, Nephronophthisis 15
RS780889226 EPG5 Health Risk Pathogenic/Likely pathogenic Vici syndrome, EPG5-related disorder
RS780889272 ORC4 Health Risk Pathogenic —
RS780889402 PEPD Health Risk Conflicting classifications of pathogenicity Prolidase deficiency, Prolidase deficiency
RS780890592 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Inborn genetic diseases
RS780890722 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS780891381 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS780891440 TGFB3 Health Risk Conflicting classifications of pathogenicity Rienhoff syndrome, Rienhoff syndrome
RS780891597 PSAP Health Risk Conflicting classifications of pathogenicity Krabbe disease due to saposin A deficiency, Combined PSAP deficiency
RS780893183 RNF43 Health Risk Conflicting classifications of pathogenicity —
RS780893472 PYGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type VI
RS780893836 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS780893919 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Usher syndrome type 2A
RS780895352 NDUFA9 Health Risk Conflicting classifications of pathogenicity —
RS780896294 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS780898021 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS780898043 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS780899667 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS780902262 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS780902654 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Glioma susceptibility 1
RS780902940 TFR2 Health Risk Pathogenic Hereditary hemochromatosis, Hemochromatosis type 3
RS780902942 SPRED2 Health Risk Pathogenic Noonan syndrome, Noonan syndrome 14
RS780903222 MLC1 Health Risk Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS780903555 MYOM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS780905183 SOX3 Health Risk Conflicting classifications of pathogenicity —
RS780905804 COL1A1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Osteogenesis imperfecta type I
RS780905851 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS780905861 NPHP4 Health Risk Pathogenic/Likely pathogenic Senior-Loken syndrome 4, Kidney disorder
RS780906083 CDC73 Health Risk Conflicting classifications of pathogenicity Parathyroid carcinoma, Hereditary cancer-predisposing syndrome
RS780906523 SMARCB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ovarian cancer
RS780906602 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS780907679 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS780909370 DVL1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 1
RS780909666 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive
RS780909684 TBCE Health Risk Pathogenic —
RS780909712 PRRT2 Health Risk Conflicting classifications of pathogenicity Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS780910490 AHI1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Joubert syndrome 3
RS780912886 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS780915621 MIPEP Health Risk Likely pathogenic Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome, Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
RS780917089 KMT2B Health Risk Conflicting classifications of pathogenicity —
RS780917129 CDH23 Health Risk Pathogenic/Likely pathogenic Hearing loss, autosomal recessive
RS780919805 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS780920006 VPS13C Health Risk Likely pathogenic —
RS780920036 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS780920316 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS780921226 COL3A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS780921233 FKTN Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype
RS780921270 RNF220 Health Risk Pathogenic Leukodystrophy, hypomyelinating
RS780921390 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS780921503 COL6A3 Health Risk Pathogenic/Likely pathogenic Bethlem myopathy 1A, Collagen 6-related myopathy
RS780922091 F5 Health Risk Likely pathogenic Factor V deficiency, Factor V deficiency
RS780923169 HCN4 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 8, Cardiovascular phenotype
RS780923255 ACTN2 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA
RS780924556 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS780924905 GLI3 Health Risk Conflicting classifications of pathogenicity Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS780924927 TBXAS1 Health Risk Conflicting classifications of pathogenicity Ghosal hematodiaphyseal dysplasia, Inborn genetic diseases
RS780927790 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS780928895 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS780931328 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS780932013 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS78093267 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS780933765 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS780934792 KCNJ5 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS780935123 TNPO3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1F, TNPO3-related disorder
RS780936436 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS780936696 ASPA Health Risk Pathogenic/Likely pathogenic Spongy degeneration of central nervous system, Canavan Disease
RS78093737 MRTFA Health Risk Conflicting classifications of pathogenicity —
RS780938957 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS780939183 JAG1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alagille syndrome due to a JAG1 point mutation
RS780939546 WWOX Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy
RS780940154 ABCA12 Health Risk Pathogenic/Likely pathogenic Lamellar ichthyosis, Lamellar ichthyosis
RS780940263 SCN8A Health Risk Conflicting classifications of pathogenicity SCN8A-related disorder, Inborn genetic diseases
RS780940515 KCNB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 26
RS780941204 CEP164 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 15, Inborn genetic diseases
RS780941330 SDHA Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1GG, Pheochromocytoma/paraganglioma syndrome 5
RS780941610 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
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