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
RS778744548 HADHB Health Risk Pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS778745098 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Lethal acantholytic epidermolysis bullosa
RS778745264 INVS Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS778745375 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 2A, Multiple endocrine neoplasia
RS77874543 TNFRSF13C Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS77874614 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS778746534 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A
RS778746718 SCN4A Health Risk Pathogenic Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS778747291 ABCA4 Health Risk Conflicting classifications of pathogenicity —
RS778747630 STIL Health Risk Conflicting classifications of pathogenicity Microcephaly 7, primary
RS778748895 KARS1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 89, LEUKOENCEPHALOPATHY
RS778749289 TCF20 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778749893 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS778750904 ECEL1 Health Risk Likely pathogenic Distal arthrogryposis type 5D, Distal arthrogryposis type 5D
RS778751243 C2CD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778751712 HMGCL Health Risk Likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS77875361 ADCY10 Health Risk Conflicting classifications of pathogenicity ADCY10-related disorder, ADCY10-related disorder
RS778753999 MARS1 Health Risk Conflicting classifications of pathogenicity Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U
RS778754301 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS778754576 RAB3GAP2 Health Risk Conflicting classifications of pathogenicity Martsolf syndrome, Warburg micro syndrome 2
RS778755775 ISCA2 Health Risk Conflicting classifications of pathogenicity Multiple mitochondrial dysfunctions syndrome 4, Multiple mitochondrial dysfunctions syndrome 4
RS778756586 TULP1 Health Risk Likely pathogenic Retinitis pigmentosa 14, Retinitis pigmentosa 14
RS778756815 TPP1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 2, Inborn genetic diseases
RS778757743 TTLL5 Health Risk Likely pathogenic —
RS778757759 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS778759606 ACE Health Risk Pathogenic ACE-related disorder, Hemorrhage
RS778760498 SGCD Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
RS778761405 LCT Health Risk Conflicting classifications of pathogenicity Congenital lactase deficiency, Congenital lactase deficiency
RS778762668 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS778764720 CPS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Congenital hyperammonemia
RS778766382 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS778766516 SZT2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778768116 RPE65 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS778768583 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS778769841 BCS1L Health Risk Pathogenic/Likely pathogenic Pili torti-deafness syndrome, GRACILE syndrome
RS778770826 NEK8 Health Risk Conflicting classifications of pathogenicity Renal-hepatic-pancreatic dysplasia 2, NEK8-related disorder
RS778770873 FBXO7 Health Risk Pathogenic Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome
RS778771960 BEST1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS778772211 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS778772732 ANO5 Health Risk Conflicting classifications of pathogenicity Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS778772942 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS778774332 KMT2B Health Risk Conflicting classifications of pathogenicity —
RS778774642 REL Health Risk Likely pathogenic —
RS778775484 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS778775834 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS778776240 CACNA1D Health Risk Conflicting classifications of pathogenicity —
RS778776585 POLA1 Health Risk Conflicting classifications of pathogenicity X-linked intellectual disability, van Esch type
RS778777181 IQCB1 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Bardet-Biedl syndrome
RS778777287 RDH5 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS778777318 IQCB1 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Senior-Loken syndrome 5
RS778777806 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS778778276 ACSF3 Health Risk Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS778779380 FGA Health Risk Pathogenic/Likely pathogenic Congenital afibrinogenemia, Familial dysfibrinogenemia
RS778780449 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS778780703 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS778780878 FAM111A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778780920 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, Inborn genetic diseases
RS778781499 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, FLNC-related disorder
RS778782209 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS778782508 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS778783316 MEF2C Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS778783933 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy
RS778784351 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS778784486 TTLL5 Health Risk Pathogenic —
RS778784751 RINT1 Health Risk Conflicting classifications of pathogenicity —
RS778786114 ATP8B1 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 1, ATP8B1-related disorder
RS778786253 KCNQ1 Health Risk Pathogenic/Likely pathogenic Long QT syndrome, Cardiac arrhythmia
RS778786636 ACAD9 Health Risk Pathogenic/Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS778790002 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778790805 P2RY12 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia, Abnormal bleeding
RS778791031 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B
RS778792467 POGZ Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS778793911 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS778794737 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS778795434 SLC19A2 Health Risk Pathogenic/Likely pathogenic Megaloblastic anemia, thiamine-responsive
RS778797882 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS778798354 COQ8A Health Risk Likely pathogenic —
RS778798942 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS778799019 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS778799889 TRMU Health Risk Pathogenic Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
RS778800284 TWIST1 Health Risk Pathogenic Saethre-Chotzen syndrome, TWIST1-related craniosynostosis
RS778801524 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Epidermolysis bullosa
RS778801776 JAG1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alagille syndrome due to a JAG1 point mutation
RS778801845 HCN4 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 8, Cardiovascular phenotype
RS778803158 TYMP Health Risk Likely pathogenic —
RS778803692 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS778804405 XPA Health Risk Pathogenic/Likely pathogenic —
RS778804628 SLC4A4 Health Risk Likely pathogenic Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis
RS778806374 AGT Health Risk Pathogenic/Likely pathogenic Essential hypertension, genetic
RS778806991 QDPR Health Risk Pathogenic Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency
RS778807405 CPA6 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial
RS778807865 TTN Health Risk Conflicting classifications of pathogenicity —
RS778808038 MYH6 Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS778808432 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS778808532 KMT2C Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 2, Kleefstra syndrome 2
RS778808650 CD36 Health Risk Conflicting classifications of pathogenicity Platelet-type bleeding disorder 10, Platelet-type bleeding disorder 10
RS778809577 ADA Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS778810550 PTCH1 Health Risk Pathogenic Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS778810767 F11 Health Risk Pathogenic —
RS778811645 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
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