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
RS1437053825 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1437058719 LAMB2 Health Risk Pathogenic —
RS143706021 SLC25A13 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, Citrin deficiency
RS143707288 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS143708326 COPB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1437096183 MTFMT Health Risk Pathogenic —
RS143709902 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1437099224 RXYLT1 Health Risk Pathogenic —
RS143710107 ERCC2 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, Inborn genetic diseases
RS143710616 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS143711050 PDE6B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2
RS1437110742 CLN3 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3
RS143711180 CEP57 Health Risk Conflicting classifications of pathogenicity Mosaic variegated aneuploidy syndrome 2, CEP57-related disorder
RS143711308 BSND Health Risk Conflicting classifications of pathogenicity Bartter syndrome, Inborn genetic diseases
RS143711342 NR3C1 Health Risk Conflicting classifications of pathogenicity Glucocorticoid resistance, Glucocorticoid resistance
RS143711562 F13A1 Health Risk Conflicting classifications of pathogenicity Factor XIII, A subunit
RS143711798 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS1437118005 SLC38A3 Health Risk Pathogenic Developmental and epileptic encephalopathy 102, Developmental and epileptic encephalopathy 102
RS1437118731 ADGRL1 Health Risk Likely pathogenic —
RS143712699 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS143712760 PNPT1 Health Risk Pathogenic/Likely pathogenic Combined oxidative phosphorylation defect type 13, Neurodevelopmental disorder
RS1437130482 SNRNP200 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143713841 OPHN1 Health Risk Conflicting classifications of pathogenicity See cases, Inborn genetic diseases
RS143715750 LMNA Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2
RS1437158047 BRIP1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS143716526 SETBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143717300 DNAAF11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 19, Primary ciliary dyskinesia
RS143717354 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS1437174284 EVC Health Risk Pathogenic/Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1437174685 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Decreased circulating carnitine concentration
RS143717755 TBCE Health Risk Conflicting classifications of pathogenicity Hypoparathyroidism-retardation-dysmorphism syndrome, Hypoparathyroidism-retardation-dysmorphism syndrome
RS143717863 LMNB2 Health Risk Conflicting classifications of pathogenicity Lipodystrophy, partial
RS1437179253 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS143717984 ALDH3A2 Health Risk Conflicting classifications of pathogenicity Sjögren-Larsson syndrome, Inborn genetic diseases
RS1437182181 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS1437184398 GPT2 Health Risk Pathogenic Inborn genetic diseases, Glutamate pyruvate transaminase 2 deficiency
RS143719656 XPNPEP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis-like nephropathy 1, Nephronophthisis-like nephropathy 1
RS143719666 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS1437200449 STRC Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 16, Autosomal recessive nonsyndromic hearing loss 16
RS143720091 RGR Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 44
RS143720860 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, FLNC-related disorder
RS1437208936 DNM1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A
RS1437210856 POPDC3 Health Risk Pathogenic Muscular dystrophy, limb-girdle
RS1437215284 C2CD3 Health Risk Pathogenic —
RS143722284 IARS2 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
RS143722436 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS1437225536 PADI3 Health Risk Pathogenic Central centrifugal cicatricial alopecia, Central centrifugal cicatricial alopecia
RS143722841 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS1437228763 CNGA3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 2, Achromatopsia 2
RS143722994 TGM5 Health Risk Conflicting classifications of pathogenicity Acral peeling skin syndrome, Inborn genetic diseases
RS143723043 CHAT Health Risk Conflicting classifications of pathogenicity Familial infantile myasthenia, Familial infantile myasthenia
RS143723093 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, Familial dysautonomia
RS143723454 DNAI2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 9
RS1437236428 SLC6A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Epilepsy with myoclonic atonic seizures
RS143724414 NBAS Health Risk Conflicting classifications of pathogenicity NBAS-related disorder, NBAS-related disorder
RS143724477 CIZ1 Health Risk Conflicting classifications of pathogenicity Dystonic disorder, Dystonic disorder
RS143725101 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases
RS1437259556 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1437269265 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia
RS143727251 OPTN Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 12, Primary open angle glaucoma
RS143727353 ZNF341 Health Risk Conflicting classifications of pathogenicity Hyper-IgE recurrent infection syndrome 3, autosomal recessive
RS1437274494 ETV6 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia, Abnormal bleeding
RS143727462 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS143727702 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS1437280900 CCM2 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS143728180 WHRN Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 31, Usher syndrome type 2D
RS143728288 NPAP1 Health Risk Conflicting classifications of pathogenicity —
RS143728471 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder
RS1437291000 PEX6 Health Risk Conflicting classifications of pathogenicity —
RS143730090 TECTA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1437304335 TTC21B Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Nephronophthisis
RS143730802 CLN8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis
RS1437308674 AP4M1 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1437309558 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS143731572 CBX2 Health Risk Conflicting classifications of pathogenicity —
RS1437320571 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS1437321108 ODAD3 Health Risk Pathogenic Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30
RS143732959 RSPH4A Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 11, Primary ciliary dyskinesia
RS1437329709 GFM1 Health Risk Pathogenic —
RS143733126 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS143733205 TMPRSS3 Health Risk Conflicting classifications of pathogenicity —
RS143733383 GPI Health Risk Conflicting classifications of pathogenicity Hemolytic anemia due to glucophosphate isomerase deficiency, Inborn genetic diseases
RS143734330 PHYH Health Risk Conflicting classifications of pathogenicity Phytanic acid storage disease, Phytanic acid storage disease
RS143734494 ARSI Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS143734567 FTSJ1 Health Risk Conflicting classifications of pathogenicity —
RS143734860 PLOD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143735210 TMEM43 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5
RS1437353033 RCBTB1 Health Risk Pathogenic —
RS143735377 ACVRL1 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS143736302 UBQLN2 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 15, Amyotrophic lateral sclerosis type 15
RS143736590 CTSC Health Risk Conflicting classifications of pathogenicity Haim-Munk syndrome, Papillon-Lefèvre syndrome
RS143736611 ZZEF1 Health Risk Conflicting classifications of pathogenicity —
RS143736974 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS1437370264 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1437372036 PROS1 Health Risk Likely pathogenic Protein S deficiency disease, PROS1-related disorder
RS143737660 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1437382824 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS143739249 STAMBP Health Risk Pathogenic/Likely pathogenic Microcephaly-capillary malformation syndrome, Microcephaly-capillary malformation syndrome
RS1437392838 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS143739550 FOXRED1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
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