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
RS765389013 DNMT3A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS765389300 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS765390290 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS765390600 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS765390756 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS765391058 COPA Health Risk Conflicting classifications of pathogenicity Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases
RS765392662 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS765393777 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal dominant form
RS765394037 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS765394821 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS765396527 NEXN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1CC
RS765397845 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS765398055 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease axonal type 2N
RS76539814 GBA1 Health Risk Pathogenic/Likely pathogenic Gaucher disease type I, Gaucher disease type II
RS765398896 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS765401006 AAGAB Health Risk Pathogenic —
RS765401548 TTLL5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765401924 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS765402802 LRP5 Health Risk Pathogenic Inborn genetic diseases, Retinal dystrophy
RS765403158 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS765403325 MAN1B1 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Rafiq syndrome
RS765403861 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy
RS765404768 PEX12 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger)
RS765405352 ABCC6 Health Risk Pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS765405386 ALMS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alstrom syndrome
RS765405975 RASA1 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation syndrome, Cardiovascular phenotype
RS765406506 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Inborn genetic diseases
RS765406631 PTS Health Risk Pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS765407874 TBCK Health Risk Pathogenic/Likely pathogenic Hypotonia, infantile
RS765408537 COL4A3 Health Risk Conflicting classifications of pathogenicity Hematuria, Hematuria
RS765409185 KCNJ10 Health Risk Likely pathogenic EAST syndrome, EAST syndrome
RS765409417 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS765410591 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Acute febrile neutrophilic dermatosis
RS765410747 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765411357 AIPL1 Health Risk Likely pathogenic Leber congenital amaurosis 4, AIPL1-related retinopathy
RS765411726 DNAJC21 Health Risk Pathogenic Bone marrow failure syndrome 3, Bone marrow failure syndrome 3
RS765411990 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS765412618 RSPH4A Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS765415312 CREBBP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Rubinstein-Taybi syndrome
RS765416276 MLYCD Health Risk Conflicting classifications of pathogenicity Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS765416558 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS765416883 VPS33B Health Risk Likely pathogenic Cholestasis, progressive familial intrahepatic
RS765417421 SLC25A12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765417606 MED12 Health Risk Conflicting classifications of pathogenicity X-linked intellectual disability with marfanoid habitus, FG syndrome 1
RS765417610 DNAH1 Health Risk Pathogenic/Likely pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS765418194 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS765419233 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS765419741 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Germ cell tumor of testis
RS765420779 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Distal myopathy with anterior tibial onset
RS765420811 NBAS Health Risk Pathogenic/Likely pathogenic Infantile liver failure syndrome 2, Short stature-optic atrophy-Pelger-Huët anomaly syndrome
RS765421411 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS765421461 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary breast ovarian cancer syndrome
RS765421589 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS76542238 PAH Health Risk Pathogenic Phenylketonuria, PAH-related disorder
RS765422613 GP1BA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765423180 TGM6 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 35, Spinocerebellar ataxia type 35
RS765423555 COL4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies
RS765423779 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, ACADVL-related disorder
RS765424230 ANKRD26 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS76542495 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS765424967 MAGEL2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS765425127 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis-Noonan syndrome
RS765425704 PYGL Health Risk Pathogenic Glycogen storage disease, type VI
RS765426068 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cholestanol storage disease
RS765426544 BAG3 Health Risk Pathogenic Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS765427343 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS765427546 MOGS Health Risk Pathogenic/Likely pathogenic MOGS-congenital disorder of glycosylation, MOGS-related disorder
RS765427574 ANO5 Health Risk Pathogenic —
RS765428922 NDUFAF5 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 16
RS765429911 ABCA4 Health Risk Pathogenic Retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS765430577 ECEL1 Health Risk Pathogenic/Likely pathogenic Distal arthrogryposis type 5D, Distal arthrogryposis type 5D
RS765431150 JAG1 Health Risk Conflicting classifications of pathogenicity Isolated Nonsyndromic Congenital Heart Disease, Alagille syndrome due to a JAG1 point mutation
RS765432081 HNF1A Health Risk Likely pathogenic Diabetes mellitus, Monogenic diabetes
RS765432568 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS765433263 PMM2 Health Risk Pathogenic/Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-related disorder
RS765433422 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Cowden syndrome 1
RS765434534 GSS Health Risk Conflicting classifications of pathogenicity Inherited glutathione synthetase deficiency, Inherited glutathione synthetase deficiency
RS765435429 CRPPA Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS765435961 FLNC Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 5, Dilated Cardiomyopathy
RS765436350 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS765436929 MAP1A Health Risk Conflicting classifications of pathogenicity —
RS765436962 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS765437414 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS765437818 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS765438239 MCCC2 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency
RS765438249 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS765438313 RHO Health Risk Conflicting classifications of pathogenicity Cone dystrophy 3, Retinal dystrophy
RS765438725 DUOX2 Health Risk Pathogenic/Likely pathogenic Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS765438770 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, FLNC-related disorder
RS765442101 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS765442907 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS765443036 CYP7B1 Health Risk Pathogenic Hereditary spastic paraplegia 5A, Hereditary spastic paraplegia 5A
RS765443042 RAB23 Health Risk Pathogenic/Likely pathogenic RAB23-related Carpenter syndrome, Carpenter syndrome
RS765443815 CACNA1E Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 69
RS765444423 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS765444467 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS765444519 TCIRG1 Health Risk Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS765445413 SERPINC1 Health Risk Likely pathogenic Hereditary antithrombin deficiency, SERPINC1-related disorder
RS765445866 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS765448103 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
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