SNP Directory

400,964 genetic variants in our database.

Clear
All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS796065343 CSF3R Health Risk Pathogenic/Likely pathogenic Early T cell progenitor acute lymphoblastic leukemia, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
RS796065344 DLL4 Health Risk Pathogenic Adams-Oliver syndrome, Adams-Oliver syndrome 6
RS796065345 DLL4 Health Risk Pathogenic Adams-Oliver syndrome, Adams-Oliver syndrome
RS796065346 DLL4 Health Risk Pathogenic/Likely pathogenic Adams-Oliver syndrome, Adams-Oliver syndrome 6
RS796065347 DLL4 Health Risk Pathogenic Adams-Oliver syndrome, Adams-Oliver syndrome 6
RS796065348 DLL4 Health Risk Pathogenic Adams-Oliver syndrome, Adams-Oliver syndrome 6
RS796065350 DLL4 Health Risk Pathogenic Adams-Oliver syndrome, Adams-Oliver syndrome 6
RS796065351 DLL4 Health Risk Pathogenic Adams-Oliver syndrome, Adams-Oliver syndrome
RS796065352 SIGMAR1 Health Risk Pathogenic Autosomal recessive distal spinal muscular atrophy 2, Autosomal recessive distal spinal muscular atrophy 2
RS796065353 ABCB6 Health Risk Pathogenic Dyschromatosis universalis hereditaria 3, Dyschromatosis universalis hereditaria 3
RS796065354 ESR1 Health Risk risk factor Familial cancer of breast, Familial cancer of breast
RS796065355 NPR2 Health Risk Pathogenic Short stature with nonspecific skeletal abnormalities, Short stature with nonspecific skeletal abnormalities
RS796065356 NPR2 Health Risk Likely pathogenic Short stature with nonspecific skeletal abnormalities, Short stature with nonspecific skeletal abnormalities
RS79607350 HYDIN Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 5, Primary ciliary dyskinesia 5
RS796102824 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS796111471 TTN Health Risk Pathogenic/Likely pathogenic —
RS79611206 TNRC18 Health Risk Conflicting classifications of pathogenicity —
RS796124554 MUC16 Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS796151769 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS796161389 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS79619080 SNAI2 Health Risk Conflicting classifications of pathogenicity —
RS796197320 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS796206315 POPDC1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2X, Limb-girdle muscular dystrophy
RS796214553 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS796218194 DSP Health Risk Likely pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS796238032 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS79625057 IFITM5 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Osteogenesis imperfecta
RS79625212 GLI3 Health Risk Conflicting classifications of pathogenicity Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS796267411 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS79627159 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS796280222 EGLN1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS79628679 FLRT1 Health Risk Conflicting classifications of pathogenicity Peripheral neuropathy, Peripheral neuropathy
RS79630786 APC Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS796313537 MYH6 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy 14
RS796314079 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS796320749 THBS1 Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS79633941 CFTR Health Risk Pathogenic Cystic fibrosis, CFTR-related disorder
RS79635528 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS79635844 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS79636933 CDH23 Health Risk Conflicting classifications of pathogenicity —
RS796389290 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS796410888 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS79644671 CEP290 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 6, Joubert syndrome 5
RS796460349 BRCA2 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer
RS796478043 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS796478719 SPINK5 Health Risk Conflicting classifications of pathogenicity Netherton syndrome, Ichthyosis linearis circumflexa
RS796481281 AFF4 Health Risk Conflicting classifications of pathogenicity Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome, Inborn genetic diseases
RS79648977 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS796506759 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS796523999 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS796532309 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS79653797 GBA1 Health Risk Pathogenic/Likely pathogenic Gaucher disease type I, Gaucher disease perinatal lethal
RS79654911 KCNE1 Health Risk Conflicting classifications of pathogenicity Congenital long QT syndrome, Long QT syndrome
RS796549333 HYDIN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS79657230 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Platelet-type bleeding disorder 16
RS79658334 RET Health Risk Pathogenic/Likely pathogenic Multiple endocrine neoplasia, type 2
RS796597346 PKP2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS79660178 CFTR Health Risk Pathogenic Cystic fibrosis, CFTR-related disorder
RS796605809 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS79661516 RET Health Risk risk factor Hirschsprung disease, susceptibility to
RS796620239 DSP Health Risk Pathogenic/Likely pathogenic —
RS79662406 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Autoinflammatory syndrome
RS796635140 TTN Health Risk Likely pathogenic —
RS796651993 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS796652647 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group D2, Fanconi anemia complementation group D2
RS79666048 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS796666047 BARD1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS796667045 DES Health Risk Conflicting classifications of pathogenicity Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS79668097 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS796682308 TPM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS79668755 SLC7A14 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 68, Retinal dystrophy
RS796692860 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS796695209 JMJD1C Health Risk Conflicting classifications of pathogenicity Early myoclonic encephalopathy, Early myoclonic encephalopathy
RS79673084 DHODH Health Risk Conflicting classifications of pathogenicity Miller syndrome, DHODH-related disorder
RS796734066 RBM20 Health Risk Pathogenic Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS796744527 NKX2-1 Health Risk Pathogenic —
RS796756333 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 11
RS796797375 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS796851273 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS796872464 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS79688066 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS796891223 ABCC8 Health Risk Conflicting classifications of pathogenicity Diabetes mellitus, transient neonatal
RS796921537 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS79692855 NPHS1 Health Risk Conflicting classifications of pathogenicity Congenital nephrotic syndrome, Congenital nephrotic syndrome
RS796943170 TTN Health Risk Pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS796943858 CSTB Health Risk Pathogenic/Likely pathogenic Unverricht-Lundborg syndrome, Inborn genetic diseases
RS796964258 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS796983799 TTN Health Risk Pathogenic/Likely pathogenic —
RS797001768 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS797025921 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Cardiovascular phenotype
RS797027905 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Cutis laxa
RS797043472 G6PD Health Risk Likely pathogenic Anemia, nonspherocytic hemolytic
RS797044431 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS797044432 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS797044433 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS797044434 HEXA Health Risk Pathogenic Tay-Sachs disease, B1 variant
RS797044435 EDAR Health Risk Pathogenic Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type
RS797044436 EDAR Health Risk Pathogenic/Likely pathogenic Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type
RS797044437 EDAR Health Risk Pathogenic Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type
RS797044438 CCN6 Health Risk Pathogenic Progressive pseudorheumatoid dysplasia, Progressive pseudorheumatoid dysplasia
« Prev 1 ... 3778 3779 3780 3781 3782 3783 3784 ... 4010 Next »

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

Get Started Free →