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
RS767328866 JPH2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS767328870 C9 Health Risk Pathogenic/Likely pathogenic —
RS767329054 GALK1 Health Risk Pathogenic/Likely pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS767329180 RETREG1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RETREG1-related disorder
RS767329352 FAH Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Familial prostate cancer
RS767329761 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS767329849 DDC Health Risk Pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS767330363 PRKG1 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 8
RS767330388 NR4A2 Health Risk Conflicting classifications of pathogenicity Parkinson disease, late-onset
RS767333157 CYP21A2 Health Risk Conflicting classifications of pathogenicity ADRENAL HYPERPLASIA, CONGENITAL
RS767333304 IMPDH1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS767334253 SLC17A8 Health Risk Conflicting classifications of pathogenicity SLC17A8-related disorder, SLC17A8-related disorder
RS767337086 SLC18A2 Health Risk Conflicting classifications of pathogenicity Brain dopamine-serotonin vesicular transport disease, Brain dopamine-serotonin vesicular transport disease
RS767337193 GALT Health Risk Pathogenic/Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Inborn genetic diseases
RS767337781 DNHD1 Health Risk Conflicting classifications of pathogenicity DNHD1-related disorder, DNHD1-related disorder
RS767339003 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS767339363 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS767339739 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS767340313 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS767340319 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RAI1-related disorder
RS767340370 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS767341182 THBD Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Thrombomodulin-related bleeding disorder
RS767342253 ITGA2 Health Risk Conflicting classifications of pathogenicity Platelet-type bleeding disorder 9, Inborn genetic diseases
RS767342365 SZT2 Health Risk Pathogenic/Likely pathogenic —
RS767343063 CDH23 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 12, Pituitary adenoma 5
RS767343306 CDK4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS767343825 LHCGR Health Risk Pathogenic —
RS767343838 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS767343975 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS767344153 CDK13 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767344583 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767346840 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS767347007 KIAA0586 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS767347186 PEX5 Health Risk Pathogenic Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS767349827 SNRNP200 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS767350733 ALS2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Amyotrophic lateral sclerosis type 2
RS76735093 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 1, Short QT syndrome type 2
RS767351229 LRSAM1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS767351282 CSF1R Health Risk Conflicting classifications of pathogenicity Hereditary diffuse leukoencephalopathy with spheroids, Hereditary diffuse leukoencephalopathy with spheroids
RS767351699 EPHB4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS767351827 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS767352854 CYP4F22 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 5, Lamellar ichthyosis
RS767353320 ACE Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, ACE-related disorder
RS767354620 MYO15A Health Risk Likely pathogenic Ear malformation, Ear malformation
RS767354861 TAF1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked
RS767356585 IGF1R Health Risk Conflicting classifications of pathogenicity Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
RS767358930 AP1S1 Health Risk Likely pathogenic MEDNIK syndrome, MEDNIK syndrome
RS767359099 BBS4 Health Risk Likely pathogenic Bardet-Biedl syndrome 4, Bardet-Biedl syndrome 4
RS767359198 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification
RS767359805 CRB1 Health Risk Likely pathogenic Retinitis pigmentosa 12, Retinitis pigmentosa 12
RS767360506 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS767361165 B3GLCT Health Risk Pathogenic/Likely pathogenic Peters plus syndrome, Inborn genetic diseases
RS767361180 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS767363250 CASR Health Risk Pathogenic Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS767364451 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767365016 FLNB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767365126 KMT2C Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 2, Neurodevelopmental delay
RS767365807 ANKRD26 Health Risk Conflicting classifications of pathogenicity ANKRD26-related disorder, ANKRD26-related disorder
RS767366023 SPP2 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS767366095 PTPN23 Health Risk Pathogenic —
RS767366723 CDHR1 Health Risk Pathogenic Cone-rod dystrophy, Cone-rod dystrophy 15
RS767366957 LPL Health Risk Pathogenic Hyperlipoproteinemia, type I
RS767368474 ASNS Health Risk Pathogenic —
RS767368629 NAGS Health Risk Conflicting classifications of pathogenicity Hyperammonemia, type III
RS767368951 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS767368987 CHD7 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome
RS767370756 GRIA3 Health Risk Conflicting classifications of pathogenicity —
RS767371843 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS767372014 APC Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS767372876 OPA3 Health Risk Conflicting classifications of pathogenicity 3-Methylglutaconic aciduria type 3, Optic atrophy 3
RS767373792 PIGQ Health Risk Pathogenic Epilepsy, Epilepsy
RS767373822 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
RS767374241 CHRNE Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome
RS76737438 KCNQ1 Health Risk Likely pathogenic —
RS767375284 SDCCAG8 Health Risk Pathogenic/Likely pathogenic Senior-Loken syndrome 7, Bardet-Biedl syndrome 16
RS767377193 CYP7B1 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS767378045 MYO15A Health Risk Pathogenic Hearing loss, autosomal recessive
RS767378196 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS767378835 KMT5B Health Risk Likely pathogenic Intellectual disability, autosomal dominant 51
RS767379047 TRAP1 Health Risk Conflicting classifications of pathogenicity —
RS767379547 GPC6 Health Risk Pathogenic —
RS767379602 VCP Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
RS767380935 TUBB1 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia, isolated
RS767382450 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS76738278 KANK1 Health Risk Conflicting classifications of pathogenicity Colon adenocarcinoma, Ovarian serous cystadenocarcinoma
RS767384075 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS767384093 KBTBD13 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 6, Inborn genetic diseases
RS767384318 DLG4 Health Risk Pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS767384710 TMEM216 Health Risk Pathogenic Joubert syndrome 2, Meckel syndrome
RS767385752 RDH12 Health Risk Likely pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis 13
RS767387334 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS76738736 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 15
RS767387863 DSPP Health Risk Conflicting classifications of pathogenicity Deafness, autosomal dominant 39
RS767388018 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS767388144 NGLY1 Health Risk Pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS76738817 TENM4 Health Risk Conflicting classifications of pathogenicity —
RS767390470 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS767390750 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS767391188 EIF2B4 Health Risk Conflicting classifications of pathogenicity Vanishing white matter disease, Vanishing white matter disease
RS767392684 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
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