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
RS762559863 MFSD8 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS762559979 ALPK3 Health Risk Pathogenic —
RS762559980 LIPA Health Risk Pathogenic Wolman disease, Lysosomal acid lipase deficiency
RS762560221 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, MEGF10-related myopathy
RS762561768 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS762561997 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS762562272 SLC25A38 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS762566248 BBS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS762567071 LONP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762567430 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS762570079 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS762570903 FANCM Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Fanconi anemia
RS762571376 TUBGCP4 Health Risk Pathogenic —
RS762571378 TOP3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762571776 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS762572576 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS762573043 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS762573767 VWA1 Health Risk Likely pathogenic VWA1-related disorder, Neuromuscular disease
RS762575015 NKX2-1 Health Risk Conflicting classifications of pathogenicity —
RS762576212 DGKE Health Risk Pathogenic, low penetrance Immunoglobulin-mediated membranoproliferative glomerulonephritis, Atypical hemolytic-uremic syndrome
RS762576741 GFM1 Health Risk Conflicting classifications of pathogenicity Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS762576997 SOS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, RASopathy
RS762577093 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Familial restrictive cardiomyopathy
RS762577403 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 15
RS762578274 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS762578912 DYNC2H1 Health Risk Pathogenic Autosomal recessive retinitis pigmentosa, Autosomal recessive retinitis pigmentosa
RS762580256 TRIP11 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IA
RS762580458 NCDN Health Risk Pathogenic Neurodevelopmental disorder with infantile epileptic spasms, Neurodevelopmental disorder with infantile epileptic spasms
RS762580578 MVK Health Risk Conflicting classifications of pathogenicity Porokeratosis 3, disseminated superficial actinic type
RS762580714 KCNA2 Health Risk Pathogenic —
RS762583668 SLC2A1 Health Risk Conflicting classifications of pathogenicity Encephalopathy due to GLUT1 deficiency, Childhood onset GLUT1 deficiency syndrome 2
RS762583937 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A2-related disorder
RS762583993 TPP1 Health Risk Pathogenic —
RS762584015 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A3-related disorder
RS762584715 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS762586 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Inborn genetic diseases
RS762587131 ARID1B Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome 1, Inborn genetic diseases
RS762588205 DUOX2 Health Risk Pathogenic DUOX2-related disorder, DUOX2-related disorder
RS762588270 ALDH18A1 Health Risk Conflicting classifications of pathogenicity Cutis laxa, autosomal dominant 3
RS762588952 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, DYNC2H1-related disorder
RS762589415 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS762590281 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS762590394 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Tibial muscular dystrophy
RS762590894 AICDA Health Risk Conflicting classifications of pathogenicity Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2
RS762591075 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS762591130 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS762592218 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS762593235 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS762593451 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS762593908 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS762595592 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS762595829 FAT4 Health Risk Conflicting classifications of pathogenicity Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2
RS762596098 SLC4A11 Health Risk Pathogenic Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy-perceptive deafness syndrome
RS762596479 DNAH11 Health Risk Likely pathogenic —
RS762597192 ADGRV1 Health Risk Pathogenic —
RS762598540 ADGRV1 Health Risk Pathogenic —
RS762598979 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, 8 conditions
RS762600030 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS762600525 FMO3 Health Risk Likely pathogenic Trimethylaminuria, Trimethylaminuria
RS762601855 BARD1 Health Risk Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS762602838 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS762602865 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS762603514 COL2A1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Connective tissue disorder
RS76260483 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS762605718 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Inborn genetic diseases
RS762605919 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Autoinflammatory syndrome
RS762606406 CLRN1 Health Risk Pathogenic Usher syndrome type 3A, Retinitis pigmentosa
RS762607878 WDR81 Health Risk Pathogenic Cerebellar ataxia, intellectual disability
RS762608746 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS762608997 DCAF17 Health Risk Pathogenic Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome
RS762609054 ADCY5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762610106 ETV6 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 5, Inborn genetic diseases
RS762610288 SLC34A3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease
RS762611736 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS762612208 TCTN1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 13, Joubert syndrome 13
RS762612242 LARGE1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy type B6, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS762612591 AP4B1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 47, Hereditary spastic paraplegia 47
RS762613036 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, MYH9-related disorder
RS762613490 MKKS Health Risk Pathogenic/Likely pathogenic —
RS762613611 CLCNKB Health Risk Likely pathogenic —
RS762614253 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, Inborn genetic diseases
RS762614315 ARSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS762615459 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Spherocytosis
RS762615993 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS762616491 CPT1C Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 73, Hereditary spastic paraplegia 73
RS762617660 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762619071 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS762619360 ALDOA Health Risk Pathogenic HNSHA due to aldolase A deficiency, HNSHA due to aldolase A deficiency
RS762619509 HSD17B3 Health Risk Conflicting classifications of pathogenicity Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency
RS762620949 NDUFAF6 Health Risk Likely pathogenic Leigh syndrome, Leigh syndrome
RS762621113 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS762621627 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS762622002 ERCC2 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS762623799 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS762624092 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS762624758 GARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS762625409 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A1-related disorder
RS762625437 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS762626209 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS762626359 POLE Health Risk Conflicting classifications of pathogenicity Familial colorectal cancer, Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
« Prev 1 ... 3398 3399 3400 3401 3402 3403 3404 ... 4509 Next »

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

Get Started Free →