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
RS1381254564 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS138125827 CHRNG Health Risk Conflicting classifications of pathogenicity Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS138126912 PRF1 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Inborn genetic diseases
RS138127105 MYH6 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy 14
RS138127286 LRP6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Coronary artery disease
RS1381275842 INVS Health Risk Conflicting classifications of pathogenicity Infantile nephronophthisis, Nephronophthisis
RS1381293874 KCNQ1 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS138129490 SMARCA2 Health Risk Conflicting classifications of pathogenicity Nicolaides-Baraitser syndrome, Inborn genetic diseases
RS138130157 PRKAG3 Health Risk association SKELETAL MUSCLE GLYCOGEN CONTENT AND METABOLISM QUANTITATIVE TRAIT LOCUS, SKELETAL MUSCLE GLYCOGEN CONTENT AND METABOLISM QUANTITATIVE TRAIT LOCUS
RS138131191 TPI1 Health Risk Conflicting classifications of pathogenicity Triosephosphate isomerase deficiency, Triosephosphate isomerase deficiency
RS1381315419 USH1C Health Risk Pathogenic Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A
RS138131967 AP4M1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 50, Hereditary spastic paraplegia 50
RS138132026 PKD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2
RS1381325040 PCARE Health Risk Pathogenic —
RS138133019 GCDH Health Risk Conflicting classifications of pathogenicity Glutaric aciduria, type 1
RS1381334911 COL7A1 Health Risk Conflicting classifications of pathogenicity —
RS138133550 DNM1L Health Risk Conflicting classifications of pathogenicity Encephalopathy, lethal
RS138133926 TULP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1381341766 FERRY3 Health Risk Likely pathogenic —
RS138134718 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, AGL-related disorder
RS138135177 CELSR2 Health Risk Conflicting classifications of pathogenicity CELSR2-related disorder, CELSR2-related disorder
RS138135248 COPB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1381368546 BBS12 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 12
RS1381370500 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS138137158 HDAC4 Health Risk Conflicting classifications of pathogenicity —
RS138137162 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS138137552 BCOR Health Risk Conflicting classifications of pathogenicity Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS138137682 SLC4A11 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Congenital hereditary endothelial dystrophy of cornea
RS138138436 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS138138689 USH1C Health Risk Pathogenic Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A
RS1381392993 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Polyps
RS1381393162 FREM1 Health Risk Likely pathogenic —
RS1381409755 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS138141071 GOLGA3 Health Risk Conflicting classifications of pathogenicity —
RS138141099 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, Inborn genetic diseases
RS138141427 ABCC8 Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus, Diabetes mellitus
RS138141474 OTOA Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 22, OTOA-related disorder
RS1381421236 STXBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS1381427322 CLN6 Health Risk Pathogenic Ceroid lipofuscinosis, neuronal
RS1381434852 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS138143719 DTNA Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 1, Left ventricular noncompaction 1
RS138143769 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1381447036 ITCH Health Risk Pathogenic Syndromic multisystem autoimmune disease due to ITCH deficiency, Syndromic multisystem autoimmune disease due to ITCH deficiency
RS1381450738 PLEC Health Risk Pathogenic/Likely pathogenic Epidermolysis bullosa simplex 5C, with pyloric atresia
RS138145424 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Duchenne muscular dystrophy
RS1381469349 CFI Health Risk Pathogenic/Pathogenic, low penetrance Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome
RS138146982 SPAST Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1381478610 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS1381481518 PROM1 Health Risk Pathogenic —
RS138148950 MRPS22 Health Risk Conflicting classifications of pathogenicity Hypotonia with lactic acidemia and hyperammonemia, MRPS22-related disorder
RS138148991 GALE Health Risk Conflicting classifications of pathogenicity UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency
RS138149179 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS138149494 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138149656 DNAH9 Health Risk Pathogenic/Likely pathogenic DNAH9-related disorder, DNAH9-related disorder
RS1381506466 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS138151279 CEP152 Health Risk Conflicting classifications of pathogenicity Microcephaly 9, primary
RS138151312 DNAH10 Health Risk Conflicting classifications of pathogenicity —
RS1381516878 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS1381519494 NAGA Health Risk Pathogenic Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 1
RS138152469 SRCAP Health Risk Conflicting classifications of pathogenicity SRCAP-related disorder, SRCAP-related disorder
RS1381525157 EVC Health Risk Pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS138153104 CCDC50 Health Risk Conflicting classifications of pathogenicity CCDC50-related disorder, CCDC50-related disorder
RS138153246 GSN Health Risk Conflicting classifications of pathogenicity —
RS138153307 MLC1 Health Risk Conflicting classifications of pathogenicity Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts
RS138154238 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS138154934 ATP7A Health Risk Conflicting classifications of pathogenicity X-linked distal spinal muscular atrophy type 3, Cutis laxa
RS138155461 TRPC6 Health Risk Conflicting classifications of pathogenicity Sarcoma, Cervical cancer
RS138155747 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS138156311 ACSF3 Health Risk Pathogenic/Likely pathogenic Combined malonic and methylmalonic acidemia, ACSF3-related disorder
RS138156402 SLC7A9 Health Risk Conflicting classifications of pathogenicity SLC7A9-related disorder, Cystinuria
RS138156449 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS138156467 CSF3R Health Risk Pathogenic/Likely pathogenic Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Inherited Immunodeficiency Diseases
RS138157153 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity Microcephaly 3, primary
RS138157520 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, CPLANE1-related disorder
RS138157585 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS138157751 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS138157885 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS138158369 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17
RS138160033 SLC52A2 Health Risk Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 2, Inborn genetic diseases
RS138160928 FGD4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4H
RS1381622639 KCNQ2 Health Risk Conflicting classifications of pathogenicity Seizures, benign familial neonatal
RS138162760 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS1381634873 RPGRIP1L Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS138163892 PITX2 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS1381641458 CTC1 Health Risk Likely pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS138164489 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Cardiovascular phenotype
RS138165832 PLOD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1381664827 TSFM Health Risk Pathogenic/Likely pathogenic Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
RS1381665298 UGDH Health Risk Likely pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS138166567 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, IFT140-related disorder
RS138167195 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS138167706 ABL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1381679718 MRE11 Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1
RS1381679767 RYR1 Health Risk Pathogenic/Likely pathogenic RYR1-related disorder, Central core myopathy
RS1381684916 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS138168899 LAMA3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138169215 EXOSC3 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS1381701157 CTLA4 Health Risk Likely pathogenic Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
RS138170393 MYBPC1 Health Risk Conflicting classifications of pathogenicity Arthrogryposis, distal
RS138171306 PEX10 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, complementation group 7
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