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
RS747506380 POMT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS747506979 GBA1 Health Risk Pathogenic Gaucher disease type I, Gaucher disease
RS747507457 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS747508159 LIPA Health Risk Pathogenic Cholesteryl ester storage disease, Wolman disease
RS747508165 G6PC3 Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
RS747509922 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS747510615 SPTAN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS747510783 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS747511049 TCIRG1 Health Risk Pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS747512450 PROM1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 1, Retinitis pigmentosa 41
RS747512816 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS747513238 PYGM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type V
RS747513278 TTN Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS747513823 STXBP2 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS747514385 CYP7B1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 5A, Hereditary spastic paraplegia
RS747514399 CYP7B1 Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Hereditary spastic paraplegia 5A
RS747514855 CBY1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS747515104 TTC21B Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Nephronophthisis
RS747515115 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS747516133 PCDH15 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1D
RS747516555 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11
RS747516623 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS747517546 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS747518441 SDHB Health Risk Likely pathogenic Pheochromocytoma, Pheochromocytoma/paraganglioma syndrome 4
RS747518922 LRP5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747520197 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS747522183 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS747522386 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS747522483 COL3A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS747522516 EIF2B2 Health Risk Conflicting classifications of pathogenicity Vanishing white matter disease, Vanishing white matter disease
RS747523570 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Myofibrillar myopathy 4
RS747524697 CEBPE Health Risk Likely pathogenic Specific granule deficiency 1, SPECIFIC GRANULE DEFICIENCY 1
RS747526439 SCN8A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS747526674 COL18A1 Health Risk Pathogenic —
RS747527621 RELN Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS747527726 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS747527740 PRDM9 Health Risk Pathogenic Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
RS747529236 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS747529491 SCN5A Health Risk Pathogenic —
RS747529694 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS747530550 SLC10A1 Health Risk Conflicting classifications of pathogenicity —
RS747531341 KIF5A Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS747531733 FAT4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, FAT4-related disorder
RS747531940 SGCE Health Risk Conflicting classifications of pathogenicity Myoclonic dystonia 11, Myoclonic dystonia 11
RS747532570 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS747533547 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS747534491 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS747534508 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS747534563 TULP1 Health Risk Conflicting classifications of pathogenicity —
RS747534810 SOS1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 4, Fibromatosis
RS747536139 SLC35A3 Health Risk Conflicting classifications of pathogenicity Autism spectrum disorder - epilepsy - arthrogryposis syndrome, Autism spectrum disorder - epilepsy - arthrogryposis syndrome
RS747536638 PDZD7 Health Risk Likely pathogenic Hearing loss, autosomal recessive 57
RS747536867 RP1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS747536886 FBXL4 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS747538224 TBC1D24 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, developmental delay with seizures
RS747538432 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, Inborn genetic diseases
RS747538587 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS747539101 UPB1 Health Risk Pathogenic/Likely pathogenic Deficiency of beta-ureidopropionase, Hepatocellular carcinoma
RS747539519 OTOF Health Risk Pathogenic —
RS747539984 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS747540967 ABCA4 Health Risk Pathogenic —
RS747541782 ADGRV1 Health Risk Likely pathogenic —
RS747542544 ATP1A2 Health Risk Conflicting classifications of pathogenicity Familial hemiplegic migraine, Familial hemiplegic migraine
RS747544155 IFT172 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly
RS747546314 MYOT Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 3, Myofibrillar myopathy 3
RS747546549 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS747546798 FAH Health Risk Pathogenic/Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS747547178 FUS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Tremor
RS747547191 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS747548016 BTD Health Risk Pathogenic Biotinidase deficiency, Biotinidase deficiency
RS747548086 HMCN1 Health Risk Conflicting classifications of pathogenicity —
RS74754826 MBL2 Health Risk Conflicting classifications of pathogenicity Mannose-binding lectin deficiency, Mannose-binding lectin deficiency
RS747549006 TSEN54 Health Risk Pathogenic —
RS747549182 COL4A2 Health Risk Conflicting classifications of pathogenicity Porencephaly 2, Porencephaly 2
RS747549978 PKLR Health Risk Likely pathogenic Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells
RS747550431 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS747550558 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS747550590 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS747551593 MYO15A Health Risk Pathogenic —
RS747552453 ABCC8 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Transitory neonatal diabetes mellitus
RS747553429 TRPM1 Health Risk Likely pathogenic Congenital stationary night blindness 1C, Congenital stationary night blindness 1C
RS74755361 DSG4 Health Risk Conflicting classifications of pathogenicity Hypotrichosis 6, Hypotrichosis 6
RS747554139 CDKL5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 2
RS747554856 SLC6A1 Health Risk Conflicting classifications of pathogenicity Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS747555346 BBS7 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 7
RS747555402 KDM6B Health Risk Pathogenic Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
RS747555833 ABCG8 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS747556765 STXBP2 Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS747557184 TUBGCP6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747557404 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS747557411 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS747557639 DCX Health Risk Pathogenic —
RS747558822 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS747559032 ACTN1 Health Risk Pathogenic/Likely pathogenic Thrombocytopenia, Macrothrombocytopenia
RS747559034 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS747559986 LARS2;LARS2-AS1 Health Risk Likely pathogenic —
RS747560095 TH Health Risk Conflicting classifications of pathogenicity Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS747561252 AIP Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS747561441 FREM2 Health Risk Pathogenic —
RS747563189 ZMPSTE24 Health Risk Conflicting classifications of pathogenicity Mandibuloacral dysplasia with type B lipodystrophy, ZMPSTE24-related disorder
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