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
RS1425051712 RYK Health Risk Conflicting classifications of pathogenicity RYK-related disorder, RYK-related disorder
RS142505542 CIT Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142506188 COL11A1 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 1, Stickler syndrome type 2
RS142506263 LRP5 Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS1425063196 SETBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142506484 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS142506651 ABCA4 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 3, Severe early-childhood-onset retinal dystrophy
RS142506765 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS1425070721 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS142507365 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, Methylcrotonyl-CoA carboxylase deficiency
RS142508030 PIGN Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 1, Inborn genetic diseases
RS142508112 LRP5 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Inborn genetic diseases
RS142508245 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS142509316 EFEMP2 Health Risk Conflicting classifications of pathogenicity Cutis laxa, autosomal recessive
RS142509393 GRHPR Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria, type II
RS1425094515 FH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS142509544 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS142509759 RB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Retinoblastoma
RS142510783 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS142510905 ARL13B Health Risk Conflicting classifications of pathogenicity Joubert syndrome 8, Inborn genetic diseases
RS142511345 KCNE1 Health Risk Conflicting classifications of pathogenicity Congenital long QT syndrome, Long QT syndrome
RS142512424 TTC21B Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Nephronophthisis
RS142512524 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 23
RS142513387 KIF1C Health Risk Conflicting classifications of pathogenicity Spastic ataxia 2, Inborn genetic diseases
RS142513839 CAST Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142514490 ISCU Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142515048 SH2B1 Health Risk Conflicting classifications of pathogenicity Premature ovarian failure, Distal 16p11.2 microdeletion syndrome
RS142515812 DOCK3 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with impaired intellectual development, hypotonia
RS142516188 IL1RL1 Health Risk Conflicting classifications of pathogenicity —
RS1425163522 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1425166755 SOX9 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, SOX9-related disorder
RS1425170841 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS142517342 TSHR Health Risk Conflicting classifications of pathogenicity Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations
RS142517355 LIM2 Health Risk Conflicting classifications of pathogenicity Cataract 19 multiple types, LIM2-related disorder
RS142517808 POLR3B Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
RS1425178905 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS142518256 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome 3
RS142519614 THBS1 Health Risk Conflicting classifications of pathogenicity Premature ovarian failure, Premature ovarian failure
RS1425206026 SHOX Health Risk Pathogenic Leri-Weill dyschondrosteosis, Leri-Weill dyschondrosteosis
RS1425208118 CYP27A1 Health Risk Pathogenic/Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS1425211517 INVS Health Risk Pathogenic Nephronophthisis, Infantile nephronophthisis
RS142521318 RMND1 Health Risk Conflicting classifications of pathogenicity —
RS1425230568 COL4A3 Health Risk Likely pathogenic Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome
RS142523692 COL11A1 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 1, Stickler syndrome type 2
RS142524025 HLCS Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS142524280 SMC3 Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 3, Inborn genetic diseases
RS142524348 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS142525507 MTMR14 Health Risk Conflicting classifications of pathogenicity MTMR14-related disorder, MTMR14-related disorder
RS142525903 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1425262198 LRBA Health Risk Likely pathogenic LRBA-related disorder, LRBA-related disorder
RS142526715 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal dominant polycystic liver disease
RS142527052 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS142530390 PLA2G6 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration
RS142530679 HIVEP1 Health Risk Conflicting classifications of pathogenicity —
RS142530738 GEMIN5 Health Risk Conflicting classifications of pathogenicity —
RS142531034 BCHE Health Risk Conflicting classifications of pathogenicity Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase
RS142531974 CHRND Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS1425319851 TBX1 Health Risk Pathogenic —
RS142532084 DNAH2 Health Risk Conflicting classifications of pathogenicity DNAH2-related disorder, Inborn genetic diseases
RS1425322355 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS142533439 C1QTNF5;MFRP Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 5, MFRP-related disorder
RS142534126 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS142534349 EPAS1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS142535753 LRPPRC Health Risk Conflicting classifications of pathogenicity Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS1425360495 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS142536231 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Congenital muscular dystrophy due to partial LAMA2 deficiency
RS142536561 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS142536637 PNKD Health Risk Conflicting classifications of pathogenicity Paroxysmal nonkinesigenic dyskinesia, Paroxysmal nonkinesigenic dyskinesia 1
RS142536729 SLC25A26 Health Risk Conflicting classifications of pathogenicity —
RS1425369800 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS142537154 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS142537392 SCN10A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1425381964 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS1425386869 C9 Health Risk Pathogenic —
RS142539088 FAM111A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1425392070 COX10 Health Risk Likely pathogenic Mitochondrial complex IV deficiency, nuclear type 3
RS142539314 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RAI1-related disorder
RS142539336 CCDC88C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CCDC88C-related disorder
RS142539969 TCIRG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS142540289 BCS1L Health Risk Conflicting classifications of pathogenicity Leigh syndrome, GRACILE syndrome
RS142540482 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS142540692 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS1425411066 FLG Health Risk Pathogenic —
RS142541603 RAB33B Health Risk Conflicting classifications of pathogenicity Smith-McCort dysplasia 2, Smith-McCort dysplasia 2
RS142541718 SPTB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142542271 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Spherocytosis
RS142542453 BCKDK Health Risk Conflicting classifications of pathogenicity Branched-chain keto acid dehydrogenase kinase deficiency, Branched-chain keto acid dehydrogenase kinase deficiency
RS1425433912 IPO8 Health Risk Likely pathogenic IPO8 related Connective tissue disorder, VISS syndrome
RS142543645 CSF1R Health Risk Conflicting classifications of pathogenicity CSF1R-related disorder, Inborn genetic diseases
RS142544129 TNC Health Risk Conflicting classifications of pathogenicity —
RS142544192 NSD1 Health Risk Conflicting classifications of pathogenicity —
RS142545002 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS142546324 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS1425470015 RASA1 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation syndrome, Cardiovascular phenotype
RS1425473449 FANCC Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1425483905 RAD21 Health Risk Pathogenic Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4
RS142548565 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1425490698 UNC80 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142549310 LRP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Donnai-Barrow syndrome
RS142549864 UNC119 Health Risk Conflicting classifications of pathogenicity —
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