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
RS748069734 MYO18B Health Risk Likely pathogenic MYO18B-related disorder, MYO18B-related disorder
RS748069737 DOCK6 Health Risk Likely pathogenic —
RS748070271 TNPO3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F
RS748071471 FREM2 Health Risk Pathogenic —
RS748072057 PKP2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS748072501 RPGRIP1 Health Risk Pathogenic Leber congenital amaurosis 6, Leber congenital amaurosis 6
RS748074236 HTRA1 Health Risk Likely pathogenic Cerebral arteriopathy, autosomal dominant
RS748074364 BCOR Health Risk Pathogenic Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS748075089 GRIN2B Health Risk Pathogenic Intellectual disability, autosomal dominant 6
RS748075979 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS748076639 SLC17A8 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 25, Autosomal dominant nonsyndromic hearing loss 25
RS748076659 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, Inborn genetic diseases
RS748077751 SIX6 Health Risk Likely pathogenic Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome, Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
RS748077880 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS748078123 TNNT2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy 2
RS748079162 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS748079943 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS748080151 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS748082314 IGF1R Health Risk Conflicting classifications of pathogenicity Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
RS748082671 PSMB8 Health Risk Pathogenic PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC
RS748082803 SLC2A1 Health Risk Conflicting classifications of pathogenicity GLUT1 deficiency syndrome 1, autosomal recessive
RS748082838 DNMT3A Health Risk Pathogenic —
RS748084362 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS748084580 KCNV2 Health Risk Pathogenic/Likely pathogenic Cone dystrophy, Retinal dystrophy
RS748084795 ATP8B1 Health Risk Conflicting classifications of pathogenicity —
RS748085214 ARID1A Health Risk Conflicting classifications of pathogenicity Astrocytoma, Inborn genetic diseases
RS748085424 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS748086016 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1F, Usher syndrome type 1F
RS748086984 RAD50 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS748087383 FKRP Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2I, Walker-Warburg congenital muscular dystrophy
RS748087536 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS748088219 LIFR Health Risk Likely pathogenic Stüve-Wiedemann syndrome 1, Stüve-Wiedemann syndrome 1
RS748088599 OTOG Health Risk Conflicting classifications of pathogenicity —
RS748089228 CANT1 Health Risk Conflicting classifications of pathogenicity —
RS748089700 SDHA Health Risk Pathogenic/Likely pathogenic Pheochromocytoma/paraganglioma syndrome 5, Hereditary cancer-predisposing syndrome
RS748089844 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS748089878 CEP152 Health Risk Pathogenic Seckel syndrome 5, Microcephaly 9
RS748090019 IFT52 Health Risk Pathogenic Short-rib thoracic dysplasia 16 with or without polydactyly, Short-rib thoracic dysplasia 16 with or without polydactyly
RS748090537 COL27A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS748090636 MPI Health Risk Conflicting classifications of pathogenicity MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS748091842 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS748092969 MORC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2Z, Charcot-Marie-Tooth disease axonal type 2Z
RS748093757 PIGO Health Risk Conflicting classifications of pathogenicity Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS748094224 SLC25A13 Health Risk Likely pathogenic Citrin deficiency, Citrullinemia
RS748094394 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS748094459 CTNS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Ocular cystinosis
RS748095080 GJB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease
RS748095129 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS748095197 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS748096417 RPE65 Health Risk Pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS748099523 SUFU Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Medulloblastoma
RS748099677 LAMB3 Health Risk Pathogenic —
RS748099966 AUH Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria type 1, 3-methylglutaconic aciduria type 1
RS748100651 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS748100852 HS6ST2 Health Risk Conflicting classifications of pathogenicity Paganini-Miozzo syndrome, Paganini-Miozzo syndrome
RS748101708 MED13L Health Risk Likely pathogenic —
RS748102589 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS748102718 TJP2 Health Risk Conflicting classifications of pathogenicity TJP2-related disorder, TJP2-related disorder
RS748102856 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Myopathy
RS748103155 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS748103437 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS748103983 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome, Congenital myasthenic syndrome 4A
RS748104371 RP1 Health Risk Pathogenic —
RS748104690 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS748105435 PLOD3 Health Risk Pathogenic/Likely pathogenic Bone fragility with contractures, arterial rupture
RS748105763 ACO2 Health Risk Conflicting classifications of pathogenicity —
RS748106387 SMARCAL1 Health Risk Pathogenic 9 conditions, Schimke immuno-osseous dysplasia
RS748107948 PODXL Health Risk Pathogenic —
RS748108031 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS748108904 MYH3 Health Risk Pathogenic —
RS74810894 RMRP Health Risk Pathogenic/Likely pathogenic Anauxetic dysplasia, Metaphyseal chondrodysplasia
RS748109163 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS748109741 CHD8 Health Risk Conflicting classifications of pathogenicity —
RS748109787 ZIC2 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 5, Holoprosencephaly 5
RS748109826 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS748109934 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS748110014 SPTAN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS748110745 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS748111134 TTN Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS748112446 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS748112833 TBK1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS748112905 WT1 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, 11p partial monosomy syndrome
RS748113748 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS748115007 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS748115066 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS748115277 ADAMTSL4 Health Risk Pathogenic ADAMTSL4-related disorder, ADAMTSL4-related disorder
RS748116978 GFM1 Health Risk Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS748117291 ORC1 Health Risk Conflicting classifications of pathogenicity Meier-Gorlin syndrome 1, Meier-Gorlin syndrome 1
RS748117555 FGFR2 Health Risk Conflicting classifications of pathogenicity Craniosynostosis, nonspecific
RS748117872 MYH9 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS748118576 DONSON Health Risk Pathogenic —
RS748118737 COQ8A Health Risk Pathogenic/Likely pathogenic Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS748118992 FANCC Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS748119565 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS748119797 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS748120166 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS748120886 KCNQ2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS748123071 JAGN1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency, Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
RS748123356 SHANK3 Health Risk Conflicting classifications of pathogenicity Phelan-McDermid syndrome, Phelan-McDermid syndrome
RS748123444 DMD Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 3B, Duchenne muscular dystrophy
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