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
RS779776673 RPGRIP1L Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS779777625 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS779777836 SRP72 Health Risk Conflicting classifications of pathogenicity —
RS779778738 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Dyskeratosis congenita
RS779779299 AMACR Health Risk Conflicting classifications of pathogenicity Alpha-methylacyl-CoA racemase deficiency, Alpha-methylacyl-CoA racemase deficiency
RS779779694 TCN2 Health Risk Pathogenic Transcobalamin II deficiency, Transcobalamin II deficiency
RS779780049 NBEA Health Risk Pathogenic Intellectual disability, Intellectual disability
RS779780541 HOXB13 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Prostate cancer
RS779781718 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS779782582 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS779782731 EPHB4 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS779783209 NR0B2 Health Risk Pathogenic APC-mutation negative familial colorectal cancer, Obesity
RS779785581 PLEKHA5 Health Risk Likely pathogenic Cleft lip with or without cleft palate, Cleft lip with or without cleft palate
RS779786833 ABCA1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS779787878 CAPN1 Health Risk Likely pathogenic Autosomal recessive spastic paraplegia type 76, Autosomal recessive spastic paraplegia type 76
RS779788036 SKIC2 Health Risk Likely pathogenic —
RS779788156 FGF12 Health Risk Likely pathogenic —
RS779788706 CABP4 Health Risk Pathogenic/Likely pathogenic Cone-rod synaptic disorder, congenital nonprogressive
RS779789452 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS779789610 CASZ1 Health Risk Likely pathogenic —
RS779790393 KIF1A Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 9
RS779791079 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Usher syndrome type 2A
RS779791105 CYP21A2 Health Risk Likely pathogenic ADRENAL HYPERPLASIA, CONGENITAL
RS779791579 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Holoprosencephaly 7
RS779792601 BCKDHA Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Inborn genetic diseases
RS779792778 KIAA0586 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
RS779792989 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS779793192 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS779793300 ABCC9 Health Risk Pathogenic Dilated cardiomyopathy 1O, Cardiovascular phenotype
RS779793371 GABRD Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Idiopathic generalized epilepsy
RS779793402 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS779793496 RTEL1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 5
RS779793755 AASS Health Risk Likely pathogenic Hyperlysinemia, Hyperlysinemia
RS779794319 DDX25 Health Risk Pathogenic Azoospermia, Azoospermia
RS779794474 PNPT1 Health Risk Conflicting classifications of pathogenicity —
RS779794904 FRAS1 Health Risk Conflicting classifications of pathogenicity —
RS779794980 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS779795223 SFTPB Health Risk Pathogenic Surfactant metabolism dysfunction, pulmonary
RS779796058 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, Familial dysautonomia
RS779796704 MYO7A Health Risk Likely pathogenic Usher syndrome type 1B, Usher syndrome type 1B
RS779798129 DOK7 Health Risk Likely pathogenic Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS779798309 ALDH5A1 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS779798363 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS779799358 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS779799402 BLTP1 Health Risk Likely pathogenic BLTP1-related disorder, BLTP1-related disorder
RS779800232 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS779801126 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS779801540 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS779802284 F11 Health Risk Pathogenic/Likely pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS779802353 HMGCL Health Risk Pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS779802963 COL10A1 Health Risk Pathogenic/Likely pathogenic See cases, Metaphyseal chondrodysplasia
RS779803447 DONSON Health Risk Likely pathogenic Microcephaly, short stature
RS779803541 RELN Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS779803851 SI Health Risk Pathogenic —
RS779805606 SMAD6 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 2, Aortic valve disease 2
RS779806106 FANCC Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS779806189 KANSL1 Health Risk Likely pathogenic Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS779806445 NFAT5 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, Immunodeficiency
RS779808083 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS779808613 RAF1 Health Risk Conflicting classifications of pathogenicity LEOPARD syndrome 2, Noonan syndrome 5
RS779809161 C3 Health Risk Conflicting classifications of pathogenicity C3 glomerulonephritis, C3 glomerulonephritis
RS779809359 CYBA Health Risk Pathogenic Granulomatous disease, chronic
RS779809838 CREB3L1 Health Risk Pathogenic Osteogenesis imperfecta type 16, Osteogenesis imperfecta type 16
RS779809935 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS779810410 RTEL1 Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS779810551 NEXN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS779811073 EGR2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
RS779811889 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS779812100 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS779813730 KCNH1 Health Risk Conflicting classifications of pathogenicity Epilepsy, Epilepsy
RS779815395 ENG Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia
RS779816027 CHRNE Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS779818222 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS779819069 KBTBD13 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 6, Inborn genetic diseases
RS779819186 TINF2 Health Risk Conflicting classifications of pathogenicity Revesz syndrome, Dyskeratosis congenita
RS779819811 VWF Health Risk Pathogenic Thrombocytopenia, Thrombocytopenia
RS779820079 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS779820462 ACSF3 Health Risk Pathogenic/Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS779820587 NAXE Health Risk Conflicting classifications of pathogenicity Encephalopathy, progressive
RS779821510 TRPM1 Health Risk Likely pathogenic Congenital stationary night blindness 1C, TRPM1-related disorder
RS779821643 ADGRV1 Health Risk Likely pathogenic Usher syndrome, Usher syndrome
RS779823379 CC2D2A Health Risk Pathogenic/Likely pathogenic Joubert syndrome 9, Meckel syndrome
RS779823931 ACP4 Health Risk Pathogenic Amelogenesis imperfecta, type 1J
RS779824005 CLCN4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, See cases
RS779824702 SRCAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779825421 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS779825789 C6 Health Risk Pathogenic/Likely pathogenic Complement component 6 deficiency, Complement component 6 deficiency
RS779826360 CLCN7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779827384 IRF6 Health Risk Likely pathogenic Popliteal pterygium syndrome, Orofacial cleft 6
RS779827851 FZD4 Health Risk Pathogenic —
RS779828095 GALE Health Risk Pathogenic/Likely pathogenic UDPglucose-4-epimerase deficiency, Thrombocytopenia 13
RS779829759 ABCB4 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 3, Cholestasis
RS779829941 LIFR Health Risk Pathogenic/Likely pathogenic Stuve-Wiedemann syndrome, Stüve-Wiedemann syndrome 1
RS779830137 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS779830552 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS779832256 SPINK1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Tropical pancreatitis
RS779832611 ALPL Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta, Adult hypophosphatasia
RS779832805 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS779833768 EVC Health Risk Pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS779834223 LAMA2 Health Risk Likely pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
« Prev 1 ... 3677 3678 3679 3680 3681 3682 3683 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →