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
RS1424687079 FOXP3 Health Risk Conflicting classifications of pathogenicity Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
RS1424688946 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS142468978 IRF2BPL Health Risk Conflicting classifications of pathogenicity IRF2BPL-related disorder, Inborn genetic diseases
RS1424693533 GLUD1 Health Risk Likely pathogenic GLUD1-related disorder, GLUD1-related disorder
RS1424699115 DHX37 Health Risk Likely pathogenic 9 conditions, Neurodevelopmental disorders
RS1424702720 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS142470334 SLC6A17 Health Risk Conflicting classifications of pathogenicity —
RS142471722 FBXO7 Health Risk Conflicting classifications of pathogenicity Parkinsonian-pyramidal syndrome, Inborn genetic diseases
RS142472404 TRPS1 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III
RS142472738 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS142472789 APRT Health Risk Conflicting classifications of pathogenicity Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
RS142473008 KDM6B Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
RS1424732031 JAK3 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency, autosomal recessive
RS1424732133 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS1424739250 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1424742651 ALG6 Health Risk Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS142474717 ACOX1 Health Risk Conflicting classifications of pathogenicity Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
RS1424747601 KIAA0586 Health Risk Likely pathogenic Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
RS1424748492 MOCS1 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS142474971 DKC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, DKC1-related disorder
RS142475959 HMCN1 Health Risk Conflicting classifications of pathogenicity —
RS1424761304 BARD1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Gastric cancer
RS142476324 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS142476892 B4GALT7 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome
RS142476987 DVL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal dominant Robinow syndrome 2
RS142477111 ADK Health Risk Conflicting classifications of pathogenicity Adenosine kinase deficiency, Adenosine kinase deficiency
RS142477153 TCOF1 Health Risk Conflicting classifications of pathogenicity Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS1424773596 MOCOS Health Risk Likely pathogenic Xanthinuria type II, Xanthinuria type II
RS142478532 CIITA Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, MHC class II deficiency
RS142478636 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1424788778 KCNT1 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 14
RS142478972 MOCS1 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Inborn genetic diseases
RS142478979 ADCY10 Health Risk Conflicting classifications of pathogenicity ADCY10-related disorder, ADCY10-related disorder
RS142479006 ALOXE3 Health Risk Conflicting classifications of pathogenicity ALOXE3-related disorder, ALOXE3-related disorder
RS142479179 CCDC141 Health Risk Conflicting classifications of pathogenicity —
RS1424799320 CLCN1 Health Risk Pathogenic/Likely pathogenic Congenital myotonia, autosomal recessive form
RS142479943 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS142480645 SLCO2A1 Health Risk Conflicting classifications of pathogenicity Hypertrophic osteoarthropathy, primary
RS142481170 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS1424813265 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1424813619 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS142481526 ROGDI Health Risk Conflicting classifications of pathogenicity Amelocerebrohypohidrotic syndrome, ROGDI-related disorder
RS142481947 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Usher syndrome type 2A
RS142482046 ALDH5A1 Health Risk Conflicting classifications of pathogenicity EEG abnormality, Succinate-semialdehyde dehydrogenase deficiency
RS142482048 BEST1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS142482143 ACTN2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS142482217 PRKAG2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 6, Lethal congenital glycogen storage disease of heart
RS142482393 SPART Health Risk Conflicting classifications of pathogenicity Troyer syndrome, Troyer syndrome
RS142482606 PGAP1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Intellectual disability
RS142482745 FIG4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Amyotrophic lateral sclerosis type 11
RS1424831291 PRPH2 Health Risk Likely pathogenic —
RS1424834448 MORC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2Z, Charcot-Marie-Tooth disease axonal type 2Z
RS142483613 PYGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type VI
RS142484434 CYP11B1 Health Risk Pathogenic/Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Glucocorticoid-remediable aldosteronism
RS142485035 POMGNT1 Health Risk Conflicting classifications of pathogenicity Muscle eye brain disease, Autosomal recessive limb-girdle muscular dystrophy type 2O
RS142486910 USH1G Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1G, USH1G-related disorder
RS142487190 GNPAT Health Risk Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 2, Inborn genetic diseases
RS142487599 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Autoinflammatory syndrome
RS142488318 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, KIF7-related disorder
RS142488510 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS1424890599 MCM3AP Health Risk Likely pathogenic —
RS142489534 ADAMTS13 Health Risk Conflicting classifications of pathogenicity ADAMTS13-related disorder, Inborn genetic diseases
RS1424907900 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1424923651 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS142492533 PDGFRA Health Risk Conflicting classifications of pathogenicity Idiopathic hypereosinophilic syndrome, Gastrointestinal stromal tumor
RS142493104 ATG7 Health Risk Pathogenic Spinocerebellar ataxia, autosomal recessive 31
RS1424933941 DYSF Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy, Miyoshi muscular dystrophy 1
RS142493701 RTL4 Health Risk Conflicting classifications of pathogenicity —
RS142493907 MPV17 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
RS142494121 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Lethal acantholytic epidermolysis bullosa
RS1424946706 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex, Ogna type
RS1424946987 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1424949239 INVS Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Infantile nephronophthisis
RS142495368 CRYBB1 Health Risk Conflicting classifications of pathogenicity Cataract 17 multiple types, CRYBB1-related disorder
RS142495470 SMO Health Risk Conflicting classifications of pathogenicity Curry-Jones syndrome, Curry-Jones syndrome
RS142495834 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS142496698 SLC12A6 Health Risk Conflicting classifications of pathogenicity Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS1424976594 EVC Health Risk Pathogenic/Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS142498105 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS142498180 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS142498437 SLC26A4 Health Risk Likely pathogenic Pendred syndrome, Hearing loss
RS1424984467 SATB2 Health Risk Pathogenic —
RS142499054 NDUFV1 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex I deficiency
RS142499204 PRPF8 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1424993007 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS142499840 BFSP2 Health Risk Conflicting classifications of pathogenicity —
RS142500391 PLVAP Health Risk Conflicting classifications of pathogenicity PLVAP-related disorder, PLVAP-related disorder
RS142500487 COL11A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142500730 UFSP2 Health Risk Conflicting classifications of pathogenicity Microcephaly, Intellectual disability
RS142500746 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS142501612 PHKA1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXd, Inborn genetic diseases
RS1425019451 KIAA0586 Health Risk Pathogenic Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
RS1425021300 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS1425022333 NKX2-5 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Cardiovascular phenotype
RS142502371 PRICKLE1 Health Risk Conflicting classifications of pathogenicity Epilepsy, progressive myoclonic
RS142502473 SERPINF2 Health Risk Conflicting classifications of pathogenicity —
RS1425028482 COL4A4 Health Risk Conflicting classifications of pathogenicity Benign familial hematuria, Benign familial hematuria
RS142502980 CNTN2 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial adult myoclonic
RS142503678 NMUR2 Health Risk Conflicting classifications of pathogenicity —
RS142503847 CP Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, CP-related disorder
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