SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS868563700 TH Health Risk Conflicting classifications of pathogenicity Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS868566811 MERTK Health Risk Pathogenic Retinitis pigmentosa 38, Retinitis pigmentosa 38
RS868573462 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS868576714 NPHS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS868580225 PEX1 Health Risk Likely pathogenic Heimler syndrome 1, Peroxisome biogenesis disorder 1B
RS868584856 IMPG1 Health Risk Pathogenic —
RS868586681 ABHD12 Health Risk Pathogenic PHARC syndrome, PHARC syndrome
RS868591838 PIEZO1 Health Risk Likely pathogenic Lymphatic malformation 6, Lymphatic malformation 6
RS868612148 GUCY2D Health Risk Pathogenic Leber congenital amaurosis 1, Cone-rod dystrophy 6
RS868620166 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS868622083 POP1 Health Risk Pathogenic —
RS868635592 RECQL4 Health Risk Pathogenic/Likely pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS868637545 TSHB Health Risk Pathogenic Isolated thyroid-stimulating hormone deficiency, Isolated thyroid-stimulating hormone deficiency
RS868638442 VPS13A Health Risk Pathogenic —
RS868639468 KIAA0753 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS868641814 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiomyopathy
RS868642158 VPS13A Health Risk Pathogenic —
RS868646051 LOXHD1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS868650061 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS868656005 GLI3 Health Risk Conflicting classifications of pathogenicity Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS868672014 ZFYVE26 Health Risk Pathogenic Hereditary spastic paraplegia 15, Spastic paraplegia
RS868673401 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS868677428 SLC17A5 Health Risk Pathogenic/Likely pathogenic Salla disease, Salla disease
RS868678918 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS868684244 SH3BP2 Health Risk Conflicting classifications of pathogenicity Fibrous dysplasia of jaw, Inborn genetic diseases
RS868688877 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS868693884 HADHA Health Risk Pathogenic/Likely pathogenic Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS868694099 UBE3A Health Risk Likely pathogenic —
RS868695692 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS868695898 MRPS22 Health Risk Pathogenic —
RS868701952 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS868706737 MFF Health Risk Likely pathogenic Encephalopathy due to defective mitochondrial and peroxisomal fission 2, Encephalopathy due to defective mitochondrial and peroxisomal fission 2
RS868706745 SRCAP Health Risk Conflicting classifications of pathogenicity Floating-Harbor syndrome, Floating-Harbor syndrome
RS868710719 TCTN2 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS868715706 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS868728039 SCN3A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 62
RS868732406 ADAMTS18 Health Risk Pathogenic —
RS868732642 MFSD8 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Neuronal ceroid lipofuscinosis 7
RS868734578 ANO5 Health Risk Pathogenic/Likely pathogenic Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS868736245 TET3 Health Risk Likely pathogenic TET3-related disorder, TET3-related disorder
RS868736914 PHEX Health Risk Pathogenic —
RS868738986 DLL1 Health Risk Pathogenic Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
RS868742399 PNPLA2 Health Risk Likely pathogenic Neutral lipid storage myopathy, Abnormality of the musculature
RS868743721 RAB11B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS868744803 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS868744958 FLNC Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5
RS868745991 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS868749157 PTCH1 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 7, Gorlin syndrome
RS868755168 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS868755574 ODAD2 Health Risk Pathogenic Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23
RS868760377 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS868761735 KCNQ2 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS868762744 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS868762895 GRIN2A Health Risk Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS868763843 SAMHD1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS868768232 ALG6 Health Risk Pathogenic/Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS868776324 ALMS1 Health Risk Pathogenic/Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS868779799 DYSF Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1
RS868788199 PDHB Health Risk Likely pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS868789318 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Ventricular tachycardia
RS868791726 CAPN3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, See cases
RS868796441 PNPLA8 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS868796615 GARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS868796773 BRD4 Health Risk Likely pathogenic Cornelia de Lange syndrome 6, Cornelia de Lange syndrome 6
RS868801998 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS868806958 ADGRV1 Health Risk Likely pathogenic —
RS868808195 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS868811989 ZCCHC8 Health Risk Conflicting classifications of pathogenicity Inherited aplastic anemia, Inherited aplastic anemia
RS868816467 HADHA Health Risk Pathogenic/Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS868818936 RSRC1 Health Risk Pathogenic Intellectual developmental disorder, autosomal recessive 70
RS868819340 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS868820857 FLNB Health Risk Pathogenic Larsen syndrome, Larsen syndrome
RS868823304 TFR2 Health Risk Pathogenic/Likely pathogenic Hereditary hemochromatosis, Hemochromatosis type 3
RS868826271 ABCA1 Health Risk Conflicting classifications of pathogenicity —
RS868828587 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS868832791 POLE Health Risk Conflicting classifications of pathogenicity Intrauterine growth retardation, metaphyseal dysplasia
RS868836192 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Dilated cardiomyopathy 3B
RS868839389 EPAS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS868844377 AP4E1 Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS868845088 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS868849369 PTF1A Health Risk Pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS868850286 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS868858094 COL4A1 Health Risk Pathogenic —
RS868858346 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS868868714 HPS3 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS868906137 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS868908978 ORAI1 Health Risk Conflicting classifications of pathogenicity Myopathy, tubular aggregate
RS868910488 SLC39A4 Health Risk Pathogenic —
RS868911300 ABCD1 Health Risk Pathogenic/Likely pathogenic ABCD1-related disorder, ABCD1-related disorder
RS868914963 HCFC1 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX
RS868918302 NSDHL Health Risk Conflicting classifications of pathogenicity —
RS868923658 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS868934170 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, ABCD1-related disorder
RS868934708 SLC6A8 Health Risk Likely pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS868937910 GLA Health Risk Pathogenic Fabry disease, Cardiovascular phenotype
RS868938106 ODAD4 Health Risk Likely pathogenic Primary ciliary dyskinesia 35, Primary ciliary dyskinesia 35
RS868941656 SLC35A2 Health Risk Pathogenic SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation
RS868943420 MECP2 Health Risk Conflicting classifications of pathogenicity Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS868951923 GPAA1 Health Risk Pathogenic Glycosylphosphatidylinositol biosynthesis defect 15, Glycosylphosphatidylinositol biosynthesis defect 15
RS868953318 TKT Health Risk Pathogenic Transketolase deficiency, Transketolase deficiency
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