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
RS149019740 PLOD2 Health Risk Conflicting classifications of pathogenicity Bruck syndrome 2, Hepatocellular carcinoma
RS1490199228 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS149020371 COLQ Health Risk Pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome
RS1490204113 GNRHR Health Risk Likely pathogenic —
RS149021400 HADHA Health Risk Conflicting classifications of pathogenicity Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS1490214819 DOK7 Health Risk Likely pathogenic Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS1490219553 CUL7 Health Risk Pathogenic —
RS1490222282 CREBBP Health Risk Pathogenic —
RS1490226197 MYO15A Health Risk Pathogenic —
RS149023078 GRN Health Risk Conflicting classifications of pathogenicity GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS149023121 TMC6 Health Risk Conflicting classifications of pathogenicity Epidermodysplasia verruciformis, susceptibility to
RS1490242400 SI Health Risk Likely pathogenic —
RS149024248 ARHGAP24 Health Risk Conflicting classifications of pathogenicity —
RS1490243211 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS149024364 SCN2A Health Risk Conflicting classifications of pathogenicity See cases, Seizures
RS149024535 ATP2A2 Health Risk Conflicting classifications of pathogenicity Keratosis follicularis, Keratosis follicularis
RS149025049 PKD1L1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PKD1L1-related disorder
RS149026031 F5 Health Risk Conflicting classifications of pathogenicity Budd-Chiari syndrome, Pregnancy loss
RS149026481 DMP1 Health Risk Conflicting classifications of pathogenicity Hypophosphatemic rickets, autosomal recessive
RS149026877 TMEM38B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, TMEM38B-related disorder
RS149027078 DNAJB6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
RS1490279918 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS149028067 ITGA7 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to integrin alpha-7 deficiency, ITGA7-related disorder
RS149028181 DMXL2 Health Risk Conflicting classifications of pathogenicity Hearing loss, autosomal dominant 71
RS149028205 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Charcot-Marie-Tooth disease axonal type 2O
RS149028750 GIPC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149028760 PROM1 Health Risk Conflicting classifications of pathogenicity Retinal macular dystrophy type 2, Stargardt disease 4
RS149028936 PROS1 Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein S deficiency, autosomal dominant
RS1490289892 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS149029910 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, POLE-related disorder
RS149030156 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS149030452 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS1490309743 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS149031035 CLCN7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149031291 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1490325276 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS149032771 CNTNAP2 Health Risk Pathogenic Cortical dysplasia-focal epilepsy syndrome, CNTNAP2-related disorder
RS1490328774 AUTS2 Health Risk Pathogenic —
RS1490328834 GBE1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type IV
RS149033081 TUSC3 Health Risk Conflicting classifications of pathogenicity Congenital disorder of glycosylation, Intellectual disability
RS149033101 HCN4 Health Risk Conflicting classifications of pathogenicity Sick sinus syndrome 2, autosomal dominant
RS149033349 DNAH9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1490336426 COL17A1 Health Risk Pathogenic —
RS1490339052 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS149033942 FLT4 Health Risk Conflicting classifications of pathogenicity FLT4-related disorder, Hereditary lymphedema type I
RS149033995 FKTN Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Dilated cardiomyopathy 1X
RS149034301 SERAC1 Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria with deafness, encephalopathy
RS149035108 DARS2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
RS1490351829 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome
RS1490352414 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS149036408 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS1490366214 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS149036717 TK2 Health Risk Conflicting classifications of pathogenicity —
RS149036937 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder
RS149037732 MTRR Health Risk Conflicting classifications of pathogenicity Methylcobalamin deficiency type cblE, Disorders of Intracellular Cobalamin Metabolism
RS149038104 SDCCAG8 Health Risk Pathogenic Bardet-Biedl syndrome 16, Senior-Loken syndrome 7
RS149038150 HOXD10 Health Risk Conflicting classifications of pathogenicity Congenital vertical talus, Congenital vertical talus
RS149038393 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS1490390928 VCP Health Risk Likely pathogenic —
RS149039105 HPS5 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 5, Inborn genetic diseases
RS1490391959 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 1, Long QT syndrome 1
RS149039591 GGCX Health Risk Conflicting classifications of pathogenicity Vitamin K-dependent clotting factors, combined deficiency of
RS149039830 CRX Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS149040065 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1490405035 COL9A1 Health Risk Likely pathogenic —
RS1490417405 F8 Health Risk Pathogenic/Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor IX deficiency disease
RS1490417837 SEMA6B Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS149042353 MSH4 Health Risk Likely pathogenic Non-obstructive azoospermia, Premature ovarian failure 20
RS1490424623 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS149043166 CDHR1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 15, CDHR1-related disorder
RS149043219 WNK3 Health Risk Conflicting classifications of pathogenicity —
RS1490434047 KIAA0586 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS149043752 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS149044510 SLC9A6 Health Risk Pathogenic Christianson syndrome, Christianson syndrome
RS149044728 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2Q
RS149044964 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149045005 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS149045116 ATR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1490454727 TGM1 Health Risk Conflicting classifications of pathogenicity —
RS1490454929 EEF1A2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 33
RS149046258 NDE1 Health Risk Conflicting classifications of pathogenicity Lissencephaly 4, Lissencephaly 4
RS1490464311 SYNE4 Health Risk Pathogenic/Likely pathogenic —
RS1490467134 SBDS Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1490477251 BICRA Health Risk Pathogenic Coffin-Siris syndrome 12, Coffin-Siris syndrome 12
RS149048805 F5 Health Risk Conflicting classifications of pathogenicity Budd-Chiari syndrome, Factor V deficiency
RS1490493105 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS149049356 EXOSC3 Health Risk Pathogenic/Likely pathogenic Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 1B
RS1490493934 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS149049400 GFM1 Health Risk Conflicting classifications of pathogenicity Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS149050142 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, ABCA3-related disorder
RS1490504758 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS149050831 ANO3 Health Risk Conflicting classifications of pathogenicity Dystonic disorder, Dystonic disorder
RS149051060 SRPX2 Health Risk Conflicting classifications of pathogenicity Rolandic epilepsy, intellectual disability
RS149051148 MKKS Health Risk Conflicting classifications of pathogenicity McKusick-Kaufman syndrome, Bardet-Biedl syndrome 6
RS149051185 RD3 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 12, Leber congenital amaurosis 12
RS149052026 F11 Health Risk Conflicting classifications of pathogenicity Hereditary factor XI deficiency disease, Plasma factor XI deficiency
RS149052294 FAH Health Risk Pathogenic Tyrosinemia type I, Tyrosinemia type I
RS1490526407 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS149053004 PAX6 Health Risk Conflicting classifications of pathogenicity carboxymethyl-dextran-A2-gadolinium-DOTA, Foveal hypoplasia 1
RS1490537212 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
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