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
RS1400540411 WDR83;WDR83OS Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with seizures and speech and walking impairment, Hypercholanemia
RS1400548727 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS140055056 FIG4 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4
RS1400552764 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS140055438 FAT4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, FAT4-related disorder
RS140056847 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS140056980 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Ehlers-Danlos syndrome
RS140057151 CRYBA1 Health Risk Conflicting classifications of pathogenicity Cataract 10 multiple types, Inborn genetic diseases
RS140058659 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1400593451 DES Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy
RS140059558 MMP13 Health Risk Pathogenic/Likely pathogenic Metaphyseal chondrodysplasia, Spahr type
RS140060073 VPS13C Health Risk Conflicting classifications of pathogenicity —
RS1400601705 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS1400610583 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS140061690 TRMT10A Health Risk Conflicting classifications of pathogenicity Microcephaly, short stature
RS140061938 TMEM70 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
RS1400626849 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS140062756 DENND5A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140063016 VCAN Health Risk Conflicting classifications of pathogenicity Vitreoretinopathy, Wagner disease
RS140064044 PKD1L1 Health Risk Conflicting classifications of pathogenicity Heterotaxy, visceral
RS1400642000 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS140065359 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease
RS1400658126 MTR Health Risk Likely pathogenic Methylcobalamin deficiency type cblG, Neural tube defects
RS140066253 PSAP Health Risk Conflicting classifications of pathogenicity Gaucher disease due to saposin C deficiency, Combined PSAP deficiency
RS140066362 LRSAM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS1400666294 ITSN1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS140066692 DCTN1 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 1, Perry syndrome
RS1400669703 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS140067347 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS140067659 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS1400678650 RPE65 Health Risk Likely pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS140068188 LAMB2 Health Risk Pathogenic/Likely pathogenic LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome
RS140068549 LCAT Health Risk Likely pathogenic LCAT deficiency, Norum disease
RS140068774 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS1400688308 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1400695342 ADGRV1 Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS1400699567 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS140070005 TRIP11 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IA
RS1400703292 COQ7 Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS140070738 GRN Health Risk Conflicting classifications of pathogenicity GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS140072597 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1400738748 CFI Health Risk Pathogenic —
RS140074626 MYH3 Health Risk Conflicting classifications of pathogenicity Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1
RS140074813 ACTA1 Health Risk Conflicting classifications of pathogenicity Familial restrictive cardiomyopathy, Actin accumulation myopathy
RS140075817 EXT2 Health Risk Conflicting classifications of pathogenicity Exostoses, multiple
RS140076136 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS1400762548 COL2A1 Health Risk Conflicting classifications of pathogenicity Spondyloperipheral dysplasia, Spondyloperipheral dysplasia
RS140076803 OSGEP Health Risk Pathogenic/Likely pathogenic Galloway-Mowat syndrome 3, See cases
RS140077535 GFM2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation deficiency 39, Inborn genetic diseases
RS1400779760 BICD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
RS140078086 TCF4 Health Risk Likely pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS1400784100 COL4A3 Health Risk Pathogenic/Likely pathogenic Alport syndrome, Autosomal dominant Alport syndrome
RS140078545 TYK2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Immunodeficiency 35
RS140078827 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS140079523 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Inborn genetic diseases
RS140079759 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS140079790 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, RAD50-related disorder
RS140080192 HFE Health Risk Conflicting classifications of pathogenicity Hereditary hemochromatosis, Hemochromatosis type 1
RS140080199 STIM1 Health Risk Conflicting classifications of pathogenicity Myopathy with tubular aggregates, Stormorken syndrome
RS1400804891 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, Inborn genetic diseases
RS140080572 BCHE Health Risk Likely pathogenic Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase
RS140080678 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, USH2A-related disorder
RS1400806789 TTLL5 Health Risk Pathogenic Central areolar choroidal dystrophy, Retinal dystrophy
RS140081451 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, 6 conditions
RS140084192 FKRP Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2I
RS140084657 DCDC2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis
RS1400850021 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS140085544 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS1400868304 DEPDC5 Health Risk Pathogenic/Likely pathogenic Familial focal epilepsy with variable foci, Epilepsy
RS140087655 SNRNP200 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS140088149 FANCL Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group L
RS140089320 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Inborn genetic diseases
RS140089638 STK4 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to STK4 deficiency, Combined immunodeficiency due to STK4 deficiency
RS140089643 CAMTA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1400901127 NBAS Health Risk Pathogenic —
RS1400902839 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1400905582 MYBPC3 Health Risk Pathogenic Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS140090640 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS1400906735 ECEL1 Health Risk Pathogenic Distal arthrogryposis type 5D, Distal arthrogryposis type 5D
RS1400909786 ARID1B Health Risk Conflicting classifications of pathogenicity —
RS140090983 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS140091584 MPL Health Risk Conflicting classifications of pathogenicity Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS140092629 BMP1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 13, Osteogenesis imperfecta
RS140093046 CHM Health Risk Conflicting classifications of pathogenicity Choroideremia, Inborn genetic diseases
RS140093604 IHH Health Risk Conflicting classifications of pathogenicity Brachydactyly type A1, IHH-related disorder
RS1400938437 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS1400939830 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS140094231 SPAST Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS140094371 PCDH12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1400944385 FOXC1 Health Risk Conflicting classifications of pathogenicity Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS140095668 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS140095797 ABCA8 Health Risk Conflicting classifications of pathogenicity —
RS140095832 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS140096920 VPS13D Health Risk Conflicting classifications of pathogenicity —
RS1400969239 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS1400969919 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS1400972107 AIP Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS140097446 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS140097468 PTF1A Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, Pancreatic agenesis 2
RS1400976065 METTL5 Health Risk Pathogenic Intellectual developmental disorder, autosomal recessive 72
« Prev 1 ... 491 492 493 494 495 496 497 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →