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
RS755391572 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 2, Cardiovascular phenotype
RS755391704 LOC100507346;PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS75539253 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, COL4A4-related disorder
RS755394212 TP53 Health Risk Pathogenic/Likely pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome 1
RS755395180 CPT2 Health Risk Pathogenic/Likely pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form
RS755396177 COL11A1 Health Risk Likely pathogenic —
RS755396992 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS755397770 CLN6 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis
RS755398007 CNGB1 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS755398062 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS755400861 USH1C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755401614 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS755401753 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS755402000 BTG4 Health Risk Pathogenic Oocyte maturation defect 8, Oocyte maturation defect 8
RS755402438 VPS37A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 53, Colon adenocarcinoma
RS755402538 PMM2 Health Risk Pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS755404457 SGCG Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS755404523 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS755404780 CLTC Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 56
RS755406055 CEP104 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 25, Joubert syndrome 25
RS755406730 PHEX Health Risk Pathogenic/Likely pathogenic —
RS755406867 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS755407014 AHI1 Health Risk Pathogenic Joubert syndrome 3, Joubert syndrome 3
RS755407407 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS755407886 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS755408339 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 11, Cardiovascular phenotype
RS755408841 KCNA5 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS755409090 MYOM1 Health Risk Conflicting classifications of pathogenicity Sudden cardiac death, Hypertrophic cardiomyopathy
RS755410233 MPL Health Risk Pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS755410592 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS755411424 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS755412738 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS755416052 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS755416212 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, 5-fluorouracil response
RS755416442 CTBP2 Health Risk Pathogenic Pulmonary artery atresia, Pulmonary artery atresia
RS755416498 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS755417959 FANCL Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group L, Fanconi anemia
RS755419571 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS755419857 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS755420151 GLDN Health Risk Pathogenic/Likely pathogenic Lethal congenital contracture syndrome 11, GLDN-related disorder
RS755420729 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS755420944 SETD1B Health Risk Pathogenic Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay
RS755421532 FANCE Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS755422553 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755423698 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS755425119 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, EP300-related disorder
RS755425307 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS755425370 PKP2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS755427292 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Isolated Nonsyndromic Congenital Heart Disease
RS755427809 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS755427879 CAMK2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 40
RS755429175 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS755429480 RP1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 1, Retinal dystrophy
RS755431191 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, TGFBR1-related disorder
RS755432720 SLC3A1 Health Risk Pathogenic Cystinuria, Cystinuria
RS755433685 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS755433978 BCKDHA Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS755434575 MAK Health Risk Pathogenic —
RS755435330 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS755436052 FH Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary cancer-predisposing syndrome
RS755436546 KIZ Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS755436703 MEF2C Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS755436800 EIF2B2 Health Risk Pathogenic/Likely pathogenic Vanishing white matter disease, Leukoencephalopathy with vanishing white matter 2
RS755437836 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS755437923 ACTB Health Risk Likely pathogenic Abnormal brain morphology, Short stature
RS755438177 RP1 Health Risk Pathogenic —
RS755438203 HNF4A Health Risk Conflicting classifications of pathogenicity Familial hyperinsulinism, Maturity-onset diabetes of the young type 1
RS755438542 ITGA7 Health Risk Pathogenic/Likely pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS755438733 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS755439553 C7 Health Risk Conflicting classifications of pathogenicity Complement component 7 deficiency, Complement component 7 deficiency
RS755439936 LARP7 Health Risk Conflicting classifications of pathogenicity Microcephalic primordial dwarfism, Alazami type
RS755440223 SCN1B Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome 5
RS755440519 KDM6A Health Risk Pathogenic Neurodevelopmental disorder, Kabuki syndrome 2
RS755441612 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS755442255 HSPG2 Health Risk Conflicting classifications of pathogenicity —
RS755442994 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS755443033 SEC23A Health Risk Likely pathogenic Craniolenticulosutural dysplasia, Craniolenticulosutural dysplasia
RS755443485 TYRP1 Health Risk Pathogenic —
RS755444923 MYH3 Health Risk Conflicting classifications of pathogenicity Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1
RS755445139 FLT4 Health Risk Pathogenic Congenital heart defects, multiple types
RS755445214 DMD Health Risk Conflicting classifications of pathogenicity Heart failure, Duchenne muscular dystrophy
RS755445790 TPP1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 2, Autosomal recessive spinocerebellar ataxia 7
RS755445934 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS755446743 MPZ Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
RS755447085 MPL Health Risk Pathogenic/Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS755447150 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS755447989 CEMIP2 Health Risk Pathogenic 6 conditions, 6 conditions
RS755448082 TGM5 Health Risk Likely pathogenic Acral peeling skin syndrome, Acral peeling skin syndrome
RS755449276 FH Health Risk Pathogenic —
RS755449669 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS755449808 SETX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Amyotrophic lateral sclerosis type 4
RS755451013 MYLK Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Aortic aneurysm
RS755451300 BCKDHA Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS755451488 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome
RS755452188 DMD Health Risk Likely pathogenic —
RS755453815 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS755456119 DMD Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 3B, Duchenne muscular dystrophy
RS755457098 KIF5A Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS755457576 SKIC2 Health Risk Pathogenic —
RS755458223 FOXRED1 Health Risk Pathogenic —
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