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
RS542257246 FREM2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Fraser syndrome 2
RS542258150 PINK1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
RS542259388 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, SMCHD1-related disorder
RS542263318 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS542266962 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS542268504 ERCC2 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS542268566 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS542274936 BBS7 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 7, Bardet-Biedl syndrome
RS542296728 PRPH2 Health Risk Conflicting classifications of pathogenicity Stargardt disease, PRPH2-related disorder
RS542296982 DONSON Health Risk Pathogenic DONSON-related disorder, DONSON-related disorder
RS542321016 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS542323956 CCT5 Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy with spastic paraplegia, Hereditary sensory and autonomic neuropathy with spastic paraplegia
RS542331667 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS542337286 HEPHL1 Health Risk Likely pathogenic —
RS542339299 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Autosomal recessive retinitis pigmentosa
RS542343726 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS542346344 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiovascular phenotype
RS542347773 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ovarian cancer
RS542350927 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS542352292 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS542388294 POLE Health Risk Conflicting classifications of pathogenicity Cervical cancer, Cervical cancer
RS542391727 CARD9 Health Risk Conflicting classifications of pathogenicity Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS542392980 SMAD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
RS542395849 FANCL Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS542399310 PIGO Health Risk Conflicting classifications of pathogenicity Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS542406401 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS542410903 ACOX1 Health Risk Pathogenic Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
RS542411896 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS542412132 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, Familial dysautonomia
RS542412710 CARD11 Health Risk Pathogenic Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease
RS542417198 FGFR1 Health Risk Conflicting classifications of pathogenicity Osteoglophonic dysplasia, Craniosynostosis syndrome
RS542420576 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS542427011 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS542429051 EXOSC5 Health Risk Pathogenic/Likely pathogenic Cerebellar ataxia, brain abnormalities
RS542430685 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS542431882 CBLIF Health Risk Conflicting classifications of pathogenicity Hereditary intrinsic factor deficiency, Hereditary intrinsic factor deficiency
RS542439989 DNAI2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 9
RS542440231 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS542440592 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS542440625 TERT Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS542442173 OTOG Health Risk Conflicting classifications of pathogenicity —
RS542452381 BMPER Health Risk Conflicting classifications of pathogenicity —
RS542466006 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, RECQL4-related disorder
RS542468979 PROM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS542473653 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS542484442 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS542486327 ITPR1 Health Risk Conflicting classifications of pathogenicity —
RS542488020 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS542489955 FKBP14 Health Risk Pathogenic/Likely pathogenic Congenital muscular dystrophy, Pes valgus
RS542491960 MYH3 Health Risk Conflicting classifications of pathogenicity Distal arthrogryposis type 2B1, Freeman-Sheldon syndrome
RS542491982 RECQL Health Risk Conflicting classifications of pathogenicity —
RS542498391 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Inborn genetic diseases
RS542499079 TNC Health Risk Conflicting classifications of pathogenicity TNC-related disorder, TNC-related disorder
RS542523863 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS542541060 CHCHD10 Health Risk Conflicting classifications of pathogenicity Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
RS542547163 AGK Health Risk Pathogenic Sengers syndrome, Sengers syndrome
RS542554745 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS542557411 STXBP2 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS542565151 LOC126861898;MYH7 Health Risk Likely pathogenic —
RS542565372 CAPN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS542567139 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2Q
RS542568224 ASXL1 Health Risk Conflicting classifications of pathogenicity —
RS542574339 GDF5 Health Risk Conflicting classifications of pathogenicity Grebe syndrome, Acromesomelic dysplasia 2C
RS542587081 OCA2 Health Risk Pathogenic —
RS542593908 SLC39A13 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Ehlers-Danlos syndrome
RS542601704 TRPM6 Health Risk Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
RS542610160 CHAT Health Risk Conflicting classifications of pathogenicity Familial infantile myasthenia, Inborn genetic diseases
RS542617940 OPTN Health Risk Conflicting classifications of pathogenicity Primary open angle glaucoma, Amyotrophic lateral sclerosis type 12
RS542618168 CDH23 Health Risk Conflicting classifications of pathogenicity —
RS542620119 SLC26A4 Health Risk Likely pathogenic Pendred syndrome, Rare genetic deafness
RS542632090 RERE Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without anomalies of the brain, eye
RS542638302 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiovascular phenotype
RS542641721 SP7 Health Risk Conflicting classifications of pathogenicity —
RS542642242 PLEC Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 1, Epidermolysis bullosa simplex 5C
RS542643688 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS542645236 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS542646349 OTOG Health Risk Conflicting classifications of pathogenicity —
RS542652468 ATP1A3 Health Risk Pathogenic Alternating hemiplegia of childhood 2, Abnormal earlobe morphology
RS542659326 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS542661380 FLG Health Risk Pathogenic/Likely pathogenic Ichthyosis vulgaris, Ichthyosis vulgaris
RS542676905 PNPT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS542683341 MCPH1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS542692632 CACNA2D1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome
RS542693631 HECW2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS542698396 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS542698586 ITGB2 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS542700662 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS542706227 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS542708170 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS542714936 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RAI1-related disorder
RS542715642 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS542727010 SOX9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Camptomelic dysplasia
RS542730918 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Cardiovascular phenotype
RS542731017 WDR87 Health Risk Conflicting classifications of pathogenicity —
RS542731735 CPAP Health Risk Conflicting classifications of pathogenicity Microcephaly 6, primary
RS542734526 IL12RB1 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, IL12RB1-related disorder
RS542737772 GABRB3 Health Risk Conflicting classifications of pathogenicity Epilepsy, childhood absence
RS542739555 TECTA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS542745694 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS542757501 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
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