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
RS769882405 OTOG Health Risk Likely pathogenic —
RS769882474 ABCA4 Health Risk Conflicting classifications of pathogenicity —
RS769882681 COL18A1 Health Risk Pathogenic Knobloch syndrome, Knobloch syndrome
RS769882912 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial colorectal cancer type X
RS769883812 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS769884586 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS769884991 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS769886312 BCKDHB Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1B
RS769886857 LORICRIN Health Risk Conflicting classifications of pathogenicity —
RS769888108 SLC2A2 Health Risk Pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS769889352 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS769889742 TUBA1A Health Risk Pathogenic Tubulinopathy, Tubulinopathy
RS769890071 PIGS Health Risk Pathogenic Glycosylphosphatidylinositol biosynthesis defect 18, Glycosylphosphatidylinositol biosynthesis defect 18
RS769890347 RMND1 Health Risk Pathogenic/Likely pathogenic Combined oxidative phosphorylation defect type 11, Combined oxidative phosphorylation defect type 11
RS769891018 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS769891210 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS769891425 IFT80 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Connective tissue disorder
RS769891933 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Fibromatosis
RS769892461 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS769893030 SGCG Health Risk Conflicting classifications of pathogenicity —
RS769894152 HMGCS1 Health Risk Pathogenic Rigid spine syndrome, Rigid spine syndrome
RS769894315 AUH Health Risk Likely pathogenic 3-methylglutaconic aciduria type 1, 3-methylglutaconic aciduria type 1
RS769894397 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS769896492 PEX6 Health Risk Conflicting classifications of pathogenicity Heimler syndrome 2, Peroxisome biogenesis disorder
RS76989855 PRPH2 Health Risk Conflicting classifications of pathogenicity PRPH2-related disorder, Stargardt disease
RS769898852 SPG11 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 11, See cases
RS769899297 CCNO Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS769899368 PKP2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS769899629 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
RS769902280 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS769903041 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, KAT6B-related disorder
RS769903299 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, Hypophosphatasia
RS769903954 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS769904534 XIAP Health Risk Conflicting classifications of pathogenicity X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency
RS769904764 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS769906625 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS769906659 DNM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate B, Charcot-Marie-Tooth disease dominant intermediate B
RS769907044 MED17 Health Risk Conflicting classifications of pathogenicity —
RS769908186 SHMT2 Health Risk Likely pathogenic Neurodevelopmental disorder with cardiomyopathy, spasticity
RS769908800 NOTCH1 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 1, Adams-Oliver syndrome 5
RS769909288 CRB1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS769909787 NALCN Health Risk Likely pathogenic —
RS769910087 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS769910565 ABCB11 Health Risk Pathogenic/Likely pathogenic Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS769911496 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4
RS769912484 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS769912904 LHX3 Health Risk Conflicting classifications of pathogenicity Non-acquired combined pituitary hormone deficiency with spine abnormalities, Combined pituitary hormone deficiencies
RS769913556 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS769913589 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS769914244 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS769915398 TNNT3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769916610 LAMA5 Health Risk Likely pathogenic Nephrotic syndrome, Nephrotic syndrome
RS769916634 CPAP Health Risk Pathogenic —
RS769916719 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS769917254 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS769917456 PRG4 Health Risk Pathogenic Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
RS769917929 TRPM4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Progressive familial heart block type IB
RS769918278 COL9A1 Health Risk Pathogenic —
RS769918347 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS769919783 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS769919837 UBA5 Health Risk Conflicting classifications of pathogenicity —
RS769919966 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary breast ovarian cancer syndrome
RS769920499 COL11A1 Health Risk Conflicting classifications of pathogenicity COL11A1-related disorder, COL11A1-related disorder
RS769920627 SHH Health Risk Conflicting classifications of pathogenicity SHH-related disorder, SHH-related disorder
RS769921695 KMT2B Health Risk Conflicting classifications of pathogenicity Dystonia 28, childhood-onset
RS769921728 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769921972 FANCG Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group G
RS769922244 MMUT Health Risk Pathogenic/Likely pathogenic Methylmalonic acidemia, Methylmalonic acidemia
RS769922506 AMH Health Risk Pathogenic —
RS769923441 C7 Health Risk Pathogenic/Likely pathogenic C7-related disorder, C7-related disorder
RS769923567 AHNAK2 Health Risk Conflicting classifications of pathogenicity —
RS769923969 OFD1 Health Risk Likely pathogenic Joubert syndrome, Orofaciodigital syndrome I
RS769924767 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS769925158 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS76992529 TTR Health Risk Pathogenic/Likely pathogenic Amyloidosis, hereditary systemic 1
RS769926034 FREM2 Health Risk Pathogenic/Likely pathogenic Fraser syndrome 2, Isolated cryptophthalmia
RS769926882 TRDN Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS769927137 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS769929539 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS769929928 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769930190 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS769930300 CDH23 Health Risk Pathogenic —
RS769931291 TCOF1 Health Risk Pathogenic —
RS769931428 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS769933431 WDR73 Health Risk Conflicting classifications of pathogenicity Galloway-Mowat syndrome 1, Galloway-Mowat syndrome 1
RS769933448 COL7A1 Health Risk Pathogenic —
RS769934551 CPLANE1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome and related disorders, Joubert syndrome 17
RS769934894 SLC6A1 Health Risk Conflicting classifications of pathogenicity Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS769937488 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS769938205 CFHR1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Hemolytic uremic syndrome
RS769938240 PEX3 Health Risk Conflicting classifications of pathogenicity PEX3-related disorder, PEX3-related disorder
RS769939544 BCAS3 Health Risk Pathogenic Hengel-Maroofian-Schols syndrome, Hengel-Maroofian-Schols syndrome
RS769939924 USP53 Health Risk Pathogenic —
RS769939935 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS769940120 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS769940216 DLG4 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS769940455 SCN8A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS769941435 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS769941617 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 1, Connective tissue disorder
RS769942516 FAAH2 Health Risk Conflicting classifications of pathogenicity —
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