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
RS376728796 DMXL2 Health Risk Conflicting classifications of pathogenicity Polyendocrine-polyneuropathy syndrome, Hearing loss
RS376729260 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 21, Autosomal recessive nonsyndromic hearing loss 21
RS376729433 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Inborn genetic diseases
RS376730549 DIP2C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376732578 PALLD Health Risk Conflicting classifications of pathogenicity Pancreatic cancer, susceptibility to
RS376732812 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS376733146 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS376733332 CANT1 Health Risk Conflicting classifications of pathogenicity Desbuquois dysplasia 1, Desbuquois dysplasia 1
RS376733533 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS376735528 BICRA Health Risk Conflicting classifications of pathogenicity —
RS376736188 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS376736293 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS376736869 TH Health Risk Conflicting classifications of pathogenicity Autosomal recessive DOPA responsive dystonia, Inborn genetic diseases
RS376736872 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS376737530 CCDC39 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 14
RS376737897 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS376738763 MYH2 Health Risk Conflicting classifications of pathogenicity Myopathy, proximal
RS376740467 TYRP1 Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 3, Oculocutaneous albinism type 3
RS376743356 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2
RS376744130 GSN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376744360 DEPDC5 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial focal
RS376744914 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS376745254 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12
RS376745468 CLCN4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS376745644 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Dystrophin deficiency
RS376746146 TTC21B Health Risk Pathogenic Jeune thoracic dystrophy, Nephronophthisis
RS376746356 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 6
RS376747316 NDUFAF2 Health Risk Conflicting classifications of pathogenicity —
RS376748531 GJB3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 2B, Erythrokeratodermia variabilis et progressiva 1
RS376748881 HSPG2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376750375 GPR179 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1E, Congenital stationary night blindness 1E
RS376750610 PHIP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376750959 PSMB8 Health Risk Conflicting classifications of pathogenicity Proteasome-associated autoinflammatory syndrome 1, Autoinflammatory syndrome
RS376750978 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS376751288 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 8
RS376752266 MYH6 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 14
RS376753193 POMT1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
RS376753701 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 1, Type 2 collagenopathy
RS376753769 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS376753842 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS376754004 TTN Health Risk Conflicting classifications of pathogenicity —
RS376754454 FN1 Health Risk Conflicting classifications of pathogenicity Spondylometaphyseal dysplasia - Sutcliffe type, Glomerulopathy with fibronectin deposits 2
RS376754460 PMM2 Health Risk Pathogenic/Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS376754552 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 3, Joubert syndrome
RS376754657 PKD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376756158 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS376757326 KCNT1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 5, Developmental and epileptic encephalopathy
RS376757912 MAT1A Health Risk Conflicting classifications of pathogenicity Hepatic methionine adenosyltransferase deficiency, MAT1A-related disorder
RS376758113 PLEKHM2 Health Risk Conflicting classifications of pathogenicity —
RS376758763 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS376759822 COL4A2 Health Risk Conflicting classifications of pathogenicity COL4A2-related disorder, COL4A2-related disorder
RS376760085 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS376761356 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS376761576 RIMS1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 7, Cone-rod dystrophy 7
RS376761578 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS376762135 COL4A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Alport syndrome
RS376762177 GFI1B Health Risk Likely pathogenic Platelet-type bleeding disorder 17, Platelet-type bleeding disorder 17
RS376762569 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS376764211 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS376764423 MYO7A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1, Retinal dystrophy
RS376765006 SLC39A4 Health Risk Conflicting classifications of pathogenicity Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
RS376766195 GATB Health Risk Pathogenic Cardiomyopathy, mitochondrial
RS376766270 FOXF1 Health Risk Pathogenic Alveolar capillary dysplasia with pulmonary venous misalignment, Alveolar capillary dysplasia with pulmonary venous misalignment
RS376766937 INSR Health Risk Conflicting classifications of pathogenicity Leprechaunism syndrome, Insulin-resistant diabetes mellitus AND acanthosis nigricans
RS376767238 CENPF Health Risk Pathogenic Stromme syndrome, CENPF-related disorder
RS376767548 SETD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Inborn genetic diseases
RS376768346 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS376768790 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS3767698 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Usher syndrome type 2A
RS376769895 BCL11B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376772481 COL2A1 Health Risk Conflicting classifications of pathogenicity 16 conditions, 16 conditions
RS376772628 GARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Neuronopathy
RS376773500 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS376774130 FLNA Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Heterotopia
RS376775932 KDM5C Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS376775933 SMARCA4 Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome, Hereditary cancer-predisposing syndrome
RS376776701 EFL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376777270 MCOLN1 Health Risk Likely pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS376777606 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS376777685 XPNPEP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis-like nephropathy 1, Nephronophthisis-like nephropathy 1
RS376779580 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2Q
RS376780810 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS376780996 CD40 Health Risk Conflicting classifications of pathogenicity Hyper-IgM syndrome type 3, Hyper-IgM syndrome type 3
RS376781216 CREB3L3 Health Risk Pathogenic/Likely pathogenic —
RS376782159 CCDC39 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 14
RS376783257 SLC6A5 Health Risk Pathogenic Hyperekplexia 3, Hyperekplexia 3
RS376784940 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype
RS376785056 LAMB2 Health Risk Conflicting classifications of pathogenicity Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome
RS376785840 ADA2 Health Risk Pathogenic/Likely pathogenic Deficiency of adenosine deaminase 2, Autoinflammatory syndrome
RS376787114 TCF20 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376787135 LRPPRC Health Risk Conflicting classifications of pathogenicity Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS376787615 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS376787666 STAG3 Health Risk Pathogenic Premature ovarian failure 8, Premature ovarian failure 8
RS376787713 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS376787929 FGFR3 Health Risk Conflicting classifications of pathogenicity FGFR3-related disorder, FGFR3-related disorder
RS376788209 CFAP43 Health Risk Pathogenic Spermatogenic failure 19, Spermatogenic failure 19
RS376788358 RYR2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy with left ventricular noncompaction, Cardiovascular phenotype
RS376788903 NFASC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neurodevelopmental disorder with central and peripheral motor dysfunction
RS376789057 AGTR1 Health Risk Conflicting classifications of pathogenicity AGTR1-related disorder, Renal tubular dysgenesis of genetic origin
RS376789465 AMPD1 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
« Prev 1 ... 2769 2770 2771 2772 2773 2774 2775 ... 4509 Next »

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

Get Started Free →