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
RS772995932 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS772996800 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, FANCM-related disorder
RS772997069 SZT2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772998674 SETD5 Health Risk Likely pathogenic —
RS772998828 DNAH1 Health Risk Likely pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS772998974 C2CD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772999007 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, ACADVL-related disorder
RS772999215 SLC2A2 Health Risk Likely pathogenic SLC2A2-related disorder, Type 2 diabetes mellitus
RS773000242 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773001194 CAPN3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS773001228 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS773001248 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS773001987 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS773003016 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS773003463 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Patterned macular dystrophy 2
RS773004040 DDC Health Risk Pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS773004067 DEPDC5 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial focal
RS773004408 CDH23 Health Risk Likely pathogenic Usher syndrome type 1D, Pituitary adenoma 5
RS773004449 ITGA7 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS77300588 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Renal carnitine transport defect
RS773006015 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS773006531 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS773006843 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Lymphatic malformation 6
RS773006920 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS773008707 TTC21B Health Risk Likely pathogenic Nephronophthisis, Jeune thoracic dystrophy
RS773009397 PRX Health Risk Pathogenic/Likely pathogenic Dejerine-Sottas disease, Charcot-Marie-Tooth disease type 4
RS773009513 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS773010358 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS773010798 GFM2 Health Risk Likely pathogenic —
RS773011327 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS773011698 EXOC6B Health Risk Conflicting classifications of pathogenicity —
RS773012957 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, ATM-related disorder
RS773013509 ANK3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS77301371 RNASEH2B Health Risk Pathogenic Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2
RS773014425 CEP57 Health Risk Pathogenic Mosaic variegated aneuploidy syndrome 2, Mosaic variegated aneuploidy syndrome 2
RS773014744 FANCM Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia
RS773015884 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Timothy syndrome
RS773016454 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiac arrhythmia
RS773016962 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS773017134 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS773017257 HPS3 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome
RS773017713 SCARB2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Action myoclonus-renal failure syndrome
RS773017813 POMT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS773018331 OR2W3 Health Risk Conflicting classifications of pathogenicity —
RS773018519 GSS Health Risk Pathogenic/Likely pathogenic Glutathione synthetase deficiency without 5-oxoprolinuria, Glutathione synthetase deficiency with 5-oxoprolinuria
RS77301881 SMN1 Health Risk Likely pathogenic —
RS773019082 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS773019149 CCDC34 Health Risk Pathogenic Spermatogenic failure 76, Spermatogenic failure 76
RS773020101 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS773020689 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS773021303 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS773022324 GPR179 Health Risk Pathogenic/Likely pathogenic Optic atrophy, Optic atrophy
RS773022351 THOC6 Health Risk Pathogenic THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome, THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
RS773022554 KDM6A Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 2, See cases
RS773023641 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS773023974 TRMU Health Risk Conflicting classifications of pathogenicity Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Inborn genetic diseases
RS773024366 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS773024545 FKRP Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2I
RS773025155 RTEL1 Health Risk Pathogenic/Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS773025750 CLCN1 Health Risk Likely pathogenic Congenital myotonia, autosomal dominant form
RS773025752 BMP1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 13, Osteogenesis imperfecta type 13
RS773025827 AQP5 Health Risk Conflicting classifications of pathogenicity AQP5-related disorder, Palmoplantar keratoderma
RS773026490 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS773027240 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS773027800 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS773028680 SYNE1 Health Risk Likely pathogenic —
RS773029579 PYGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type VI
RS773030462 GUCY2D Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS773030662 TRPM1 Health Risk Likely pathogenic Congenital stationary night blindness 1C, Congenital stationary night blindness 1C
RS773031917 TIMMDC1 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 31
RS773032453 MSH3 Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 4, Hereditary cancer-predisposing syndrome
RS773032761 NR5A1 Health Risk Pathogenic 46, XY disorder of sex development
RS773033304 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 15
RS773033390 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS773033563 IFIH1 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS773033814 EMC1 Health Risk Pathogenic —
RS773035025 MOCS2 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
RS773035917 TTN Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Tibial muscular dystrophy
RS773036590 CLRN1 Health Risk Pathogenic —
RS773036759 WNT10A Health Risk Pathogenic/Likely pathogenic Odonto-onycho-dermal dysplasia, Tooth agenesis
RS773036963 MKS1 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS773037705 FRMD7 Health Risk Conflicting classifications of pathogenicity Nystagmus 1, congenital
RS773037813 SUFU Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Medulloblastoma
RS773039925 CHD7 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome
RS773040139 PLCG2 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3
RS773040309 PCNT Health Risk Pathogenic —
RS773040870 SERPING1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773041308 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS773041356 EIF2B2 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy with vanishing white matter 2, Leukoencephalopathy with vanishing white matter 2
RS773042150 ABCC8 Health Risk Conflicting classifications of pathogenicity Hereditary hyperinsulinism, Maturity-onset diabetes of the young
RS773042242 CLCN6 Health Risk Conflicting classifications of pathogenicity —
RS773043616 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Pituitary stalk interruption syndrome
RS773044699 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS773045257 SIX3 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 2, Inborn genetic diseases
RS773045347 FASLG Health Risk Pathogenic Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS773045737 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease type 2
RS773045896 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS773046452 DCLRE1C Health Risk Likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS773047088 TBX6 Health Risk Conflicting classifications of pathogenicity Spondylocostal dysostosis 5, TBX6-related disorder
RS773047395 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
« Prev 1 ... 3568 3569 3570 3571 3572 3573 3574 ... 4509 Next »

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

Get Started Free →