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
RS559638690 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS559641280 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis syndrome
RS559643079 FMO3 Health Risk Pathogenic Trimethylaminuria, Trimethylaminuria
RS559648418 LIPH Health Risk Pathogenic Hypotrichosis 7, Woolly hair
RS55965026 CRB2 Health Risk Pathogenic —
RS559653237 GBE1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV
RS55966236 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Idiopathic hypereosinophilic syndrome
RS55966303 LRRK1 Health Risk Likely pathogenic —
RS559666084 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS55966714 WHRN Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 31, Usher syndrome type 2D
RS559668426 SCN8A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SCN8A-related disorder
RS559674042 NAGLU Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-B
RS559683767 F5 Health Risk Conflicting classifications of pathogenicity Factor V deficiency, Budd-Chiari syndrome
RS55968715 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS559688816 FGFR2 Health Risk Conflicting classifications of pathogenicity 11 conditions, FGFR2-related craniosynostosis
RS55968949 SHANK2 Health Risk Conflicting classifications of pathogenicity Autism, susceptibility to
RS559696209 CC2D1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS559697443 ROR2 Health Risk Conflicting classifications of pathogenicity Brachydactyly type B1, Autosomal recessive Robinow syndrome
RS55970278 KCNJ2 Health Risk Conflicting classifications of pathogenicity Short QT syndrome type 3, Atrial fibrillation
RS559712998 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS559713378 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS559717059 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Lung cancer
RS559725056 COL18A1 Health Risk Conflicting classifications of pathogenicity Knobloch syndrome, COL18A1-related disorder
RS55972547 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS559727962 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS55972907 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS559732306 IVD Health Risk Conflicting classifications of pathogenicity Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS559736151 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS55973801 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS559748160 PIGO Health Risk Conflicting classifications of pathogenicity Hyperphosphatasia with intellectual disability syndrome 2, Inborn genetic diseases
RS55975699 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS55977008 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS559771770 TAB2 Health Risk Conflicting classifications of pathogenicity —
RS559772650 TCIRG1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS559773178 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS559773751 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS559774168 ABCA3 Health Risk Conflicting classifications of pathogenicity Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis
RS559776843 MMP9 Health Risk Conflicting classifications of pathogenicity —
RS559781535 AFG3L2 Health Risk Conflicting classifications of pathogenicity —
RS55978207 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, COL4A4-related disorder
RS559784211 GMPPB Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
RS559784553 DBH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Orthostatic hypotension 1
RS559788899 PTPRU Health Risk Likely pathogenic Short stature, Short stature
RS55979529 MYH9 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder
RS55980825 GATA4 Health Risk Conflicting classifications of pathogenicity Atrioventricular septal defect 4, Cardiovascular phenotype
RS55981728 SCNN1A Health Risk Conflicting classifications of pathogenicity Bronchiectasis with or without elevated sweat chloride 2, Pseudohypoaldosteronism
RS559818035 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS559821596 SLC36A2 Health Risk Conflicting classifications of pathogenicity SLC36A2-related disorder, Iminoglycinuria
RS559824825 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 25, Retinal dystrophy
RS559827815 SNTA1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 12, Long QT syndrome
RS55982963 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS55983148 USH1C Health Risk Pathogenic Usher syndrome type 1C, Usher syndrome type 1
RS559833500 SH3TC2 Health Risk Conflicting classifications of pathogenicity Susceptibility to mononeuropathy of the median nerve, mild
RS559841300 MYH9 Health Risk Conflicting classifications of pathogenicity —
RS559842146 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Inborn genetic diseases
RS559846137 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS559847737 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PIEZO1-related disorder
RS559848002 CDKN2A Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial melanoma
RS559849564 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS55985569 MET Health Risk Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1, Hereditary cancer-predisposing syndrome
RS559856575 COA8 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 1
RS55985817 MYO1A Health Risk Conflicting classifications of pathogenicity —
RS55986646 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS559869925 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Autoinflammatory syndrome
RS559873718 COQ6 Health Risk Pathogenic/Likely pathogenic Familial steroid-resistant nephrotic syndrome with sensorineural deafness, Familial steroid-resistant nephrotic syndrome with sensorineural deafness
RS559875711 CIITA Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, MHC class II deficiency
RS559882772 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS559890679 TPRN Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 79, Autosomal recessive nonsyndromic hearing loss 79
RS55989760 CYP1B1 Health Risk Pathogenic Glaucoma 3A, Glaucoma of childhood
RS559908064 ABCC2 Health Risk Conflicting classifications of pathogenicity —
RS559910904 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS559915015 ADNP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS559917218 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS559921009 PINK1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
RS55992239 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS559922535 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS559933584 RAPSN Health Risk Pathogenic/Likely pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11
RS559947047 ADCY5 Health Risk Conflicting classifications of pathogenicity —
RS559947967 AK2 Health Risk Pathogenic/Likely pathogenic Reticular dysgenesis, Reticular dysgenesis
RS559952614 PLCB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS55996097 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS559964930 PDE6B Health Risk Pathogenic —
RS559965660 CLCN7 Health Risk Conflicting classifications of pathogenicity Osteopetrosis, Osteopetrosis
RS559968504 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4
RS55997127 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS55997284 ZAP70 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency
RS559978998 TSC1 Health Risk Conflicting classifications of pathogenicity Isolated focal cortical dysplasia type II, Tuberous sclerosis 1
RS559979281 RNU4ATAC Health Risk Conflicting classifications of pathogenicity Roifman syndrome, Osteodysplastic primordial dwarfism
RS559992144 GDF2 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS559997020 EIF2B4 Health Risk Conflicting classifications of pathogenicity Vanishing white matter disease, Vanishing white matter disease
RS559998192 ABCA12 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 4A, Autosomal recessive congenital ichthyosis 4A
RS55999987 ATRIP;ATRIP-TREX1;TREX1 Health Risk Conflicting classifications of pathogenicity Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, Aicardi-Goutieres syndrome 1
RS560001473 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS560004254 FBN1 Health Risk Conflicting classifications of pathogenicity Acromicric dysplasia, Geleophysic dysplasia
RS560010455 PIGN Health Risk Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS560010627 PTCH2 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Gorlin syndrome
RS560018723 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS560019679 TNNT2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D
RS560020203 CACNB2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS560026205 SLC39A14 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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