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
RS147434102 TPRKB Health Risk Conflicting classifications of pathogenicity Nonpapillary renal cell carcinoma, Nonpapillary renal cell carcinoma
RS1474341248 NEB Health Risk Pathogenic/Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS1474341500 COL4A1 Health Risk Conflicting classifications of pathogenicity —
RS1474343714 ADGRV1 Health Risk Pathogenic Usher syndrome, Usher syndrome
RS147434450 WASHC5 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome
RS147434505 ANKRD11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ANKRD11-related disorder
RS147435007 CD3E Health Risk Pathogenic Immunodeficiency 18, Immunodeficiency 18
RS147435410 HPS4 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS147435713 DUOX2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, DUOX2-related disorder
RS147437033 MANBA Health Risk Conflicting classifications of pathogenicity Beta-D-mannosidosis, MANBA-related disorder
RS1474373656 OBSCN Health Risk Pathogenic —
RS147437610 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1474376359 GALK1 Health Risk Pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS147438050 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1474390668 GDAP1 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2K
RS147439442 ALDH5A1 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS147441124 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS147441359 ZBTB24 Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Immunodeficiency-centromeric instability-facial anomalies syndrome 2
RS147441805 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS147442301 ACADS Health Risk Pathogenic/Likely pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS147442318 TYK2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Immunodeficiency 35
RS147443162 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases
RS147443285 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS147443347 SAGE1 Health Risk Conflicting classifications of pathogenicity —
RS1474434210 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS147443644 GBA2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS147444165 CEP41 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 15, CEP41-related disorder
RS1474448985 SLC19A3 Health Risk Pathogenic Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS147445322 KCNQ1 Health Risk Conflicting classifications of pathogenicity Congenital long QT syndrome, Long QT syndrome
RS1474453319 COL3A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS1474459822 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome 1
RS147446326 CLSTN2 Health Risk Conflicting classifications of pathogenicity —
RS147446660 ABCD4 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblJ
RS147447233 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS147447269 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS147447379 COL4A5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, X-linked Alport syndrome
RS1474473957 PKD2 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 2, PKD2-related disorder
RS1474477573 COG4 Health Risk Likely pathogenic Microcephalic osteodysplastic dysplasia, Saul-Wilson type
RS1474478174 PNLDC1 Health Risk Likely pathogenic Male infertility, Male infertility
RS1474486162 CACNA1H Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Idiopathic generalized epilepsy
RS147449194 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS1474499188 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS147450988 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1474512248 ITGA7 Health Risk Pathogenic/Likely pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS147451324 CR2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS147451395 DSE Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, musculocontractural type 2
RS147451774 DMP1 Health Risk Conflicting classifications of pathogenicity Hypophosphatemic rickets, autosomal recessive
RS147451921 CEP135 Health Risk Conflicting classifications of pathogenicity CEP135-related disorder, CEP135-related disorder
RS1474519447 GCH1 Health Risk Pathogenic/Likely pathogenic Dystonia 5, GTP cyclohydrolase I deficiency
RS147452041 DUOX2 Health Risk Pathogenic/Likely pathogenic Thyroid dyshormonogenesis 6, Colon adenocarcinoma
RS1474520642 CLCN1 Health Risk Likely pathogenic Congenital myotonia, autosomal recessive form
RS1474521702 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS1474523535 NLRC4 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Periodic fever-infantile enterocolitis-autoinflammatory syndrome
RS147452416 CUL7 Health Risk Conflicting classifications of pathogenicity —
RS1474524543 CDH23 Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Pituitary adenoma 5
RS1474525486 PRX Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS147452877 CHRND Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, Inborn genetic diseases
RS147453010 PRF1 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS147453956 RAF1 Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS147453999 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome
RS147454311 SPINK1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, SPINK1-related disorder
RS147454485 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS147455037 PLA2G6 Health Risk Conflicting classifications of pathogenicity Abnormal brain morphology, Infantile neuroaxonal dystrophy
RS1474550449 RIT1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Noonan syndrome 8
RS147455569 AP3B2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 48
RS147456014 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1474566961 CYP21A2 Health Risk Pathogenic ADRENAL HYPERPLASIA, CONGENITAL
RS147457956 MMAB Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria, cblB type
RS147458358 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Inborn genetic diseases
RS147458427 EIF2AK3 Health Risk Conflicting classifications of pathogenicity Wolcott-Rallison dysplasia, Connective tissue disorder
RS147458476 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS1474585549 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS1474586656 PTS Health Risk Likely pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS1474604202 EHMT1 Health Risk Pathogenic/Likely pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS147461692 RUVBL1;SEC61A1 Health Risk Likely pathogenic —
RS1474619680 SCYL2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS147462227 PRF1 Health Risk Pathogenic Inborn genetic diseases, Familial hemophagocytic lymphohistiocytosis 2
RS1474624774 CHD5 Health Risk Pathogenic/Likely pathogenic Global developmental delay, Intellectual disability
RS147463420 SMC3 Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 3, Inborn genetic diseases
RS147464577 PKD1 Health Risk Pathogenic PKD1-related disorder, Polycystic kidney disease
RS147464959 SLC27A5 Health Risk Conflicting classifications of pathogenicity SLC27A5-related disorder, SLC27A5-related disorder
RS147465559 PNPLA2 Health Risk Conflicting classifications of pathogenicity Neutral lipid storage myopathy, Inborn genetic diseases
RS1474659679 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1474660052 BAG3 Health Risk Pathogenic Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS147466451 BICC1 Health Risk Conflicting classifications of pathogenicity Renal dysplasia, cystic
RS147466598 CARD14 Health Risk Conflicting classifications of pathogenicity Psoriasis 2, Pityriasis rubra pilaris
RS1474677081 LOXHD1 Health Risk Likely pathogenic —
RS1474686670 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS147469469 H6PD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147469708 LGI1 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial temporal lobe
RS1474701377 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS147470752 DNAI2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 9
RS147470935 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS147470944 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS147471420 ALDH4A1 Health Risk Conflicting classifications of pathogenicity Hyperprolinemia type 2, Hyperprolinemia type 2
RS147471840 TTC7A Health Risk Conflicting classifications of pathogenicity Multiple gastrointestinal atresias, Gastrointestinal defects and immunodeficiency syndrome 1
RS147472391 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Inborn genetic diseases
RS1474724198 TRMT10A Health Risk Conflicting classifications of pathogenicity —
RS147472613 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1474736821 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome 1, FG syndrome
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