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
RS374501280 ATP1A2 Health Risk Conflicting classifications of pathogenicity Familial hemiplegic migraine, Alternating hemiplegia of childhood 1
RS374502005 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS374503994 COL9A3 Health Risk Conflicting classifications of pathogenicity COL9A3-related disorder, COL9A3-related disorder
RS374504143 ITGB4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Epidermolysis bullosa
RS374504636 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS374505775 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS374506267 MED13L Health Risk Conflicting classifications of pathogenicity Dextro-looped transposition of the great arteries, Inborn genetic diseases
RS374507398 FBN2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Congenital contractural arachnodactyly
RS374507635 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cholestanol storage disease
RS374509697 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS374509926 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS374509936 OPA1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form
RS374510116 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Spherocytosis
RS374510545 COL4A6 Health Risk Conflicting classifications of pathogenicity —
RS374510886 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS374511482 GNPTG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374512699 NF2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS374514431 NFU1 Health Risk Pathogenic Multiple mitochondrial dysfunctions syndrome 1, NFU1-related disorder
RS374515005 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS374515131 HCFC1 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX
RS374515645 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, CBL-related disorder
RS374516818 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS374517178 BEST1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Vitelliform macular dystrophy 2
RS374517238 CYP11B1 Health Risk Conflicting classifications of pathogenicity Glucocorticoid-remediable aldosteronism, Deficiency of steroid 11-beta-monooxygenase
RS374517570 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS374519494 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS374520085 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS374520210 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive
RS374520570 INVS Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Infantile nephronophthisis
RS374521620 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS374522196 COL18A1 Health Risk Conflicting classifications of pathogenicity Knobloch syndrome, Knobloch syndrome
RS374522450 ARFGEF2 Health Risk Conflicting classifications of pathogenicity Periventricular heterotopia with microcephaly, autosomal recessive
RS374523376 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS374523970 TJP2 Health Risk Conflicting classifications of pathogenicity —
RS374523971 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS374524755 HEXA Health Risk Conflicting classifications of pathogenicity Tay-Sachs disease, Intellectual disability
RS374524879 SCN11A Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement
RS374525425 BBS4 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 4
RS374526072 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS374527092 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS374527841 PDE6B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2
RS374528680 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS374529177 FH Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary leiomyomatosis and renal cell cancer
RS374529489 PNKD Health Risk Conflicting classifications of pathogenicity Paroxysmal nonkinesigenic dyskinesia, Inborn genetic diseases
RS374530062 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, X-linked distal spinal muscular atrophy type 3
RS374530179 DOCK6 Health Risk Pathogenic/Likely pathogenic Adams-Oliver syndrome, Adams-Oliver syndrome 2
RS374530279 COL18A1 Health Risk Conflicting classifications of pathogenicity Knobloch syndrome, Knobloch syndrome
RS374530573 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 15, Spastic paraplegia
RS374530606 DLL4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374531355 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS374533122 ACOX1 Health Risk Conflicting classifications of pathogenicity Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
RS374534506 BMP1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 13, Inborn genetic diseases
RS374535109 INF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS374535729 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS374536346 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS3745368 RETN Health Risk risk factor Diabetes mellitus type 2, susceptibility to
RS374536805 CSF3R Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
RS374537654 IL17RA Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS374537813 SIK1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 30
RS374537884 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS374537936 FANCA Health Risk Conflicting classifications of pathogenicity Premature ovarian failure, Fanconi anemia
RS374538208 CUBN Health Risk Pathogenic/Likely pathogenic Imerslund-Grasbeck syndrome, Proteinuria
RS374538348 MYLK2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1
RS374538366 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS374538550 ATRIP Health Risk Conflicting classifications of pathogenicity —
RS374538940 DHODH Health Risk Conflicting classifications of pathogenicity Miller syndrome, Miller syndrome
RS374540275 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS374540411 CTSD Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS374540412 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colon cancer
RS374540941 MYOM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS374543266 KNL1 Health Risk Conflicting classifications of pathogenicity —
RS374544972 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, MEGF10-related myopathy
RS374545538 KMT2A Health Risk Pathogenic —
RS374545788 MANBA Health Risk Likely pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS374545987 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1
RS374546580 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS374547385 PFKM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type VII
RS374547688 TNFRSF13B Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS374548469 ABCB11 Health Risk Conflicting classifications of pathogenicity —
RS374548684 ZMYND11 Health Risk Conflicting classifications of pathogenicity —
RS374549012 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS374549078 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS374549180 PEX6 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 4A (Zellweger)
RS374549358 CDH23 Health Risk Conflicting classifications of pathogenicity —
RS374549843 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS374549966 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome
RS374550999 EXOSC3 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 1B, Pontoneocerebellar hypoplasia
RS374551434 THOC6 Health Risk Pathogenic THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome, THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
RS374552390 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS374553944 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS374554530 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS374554951 KIF5A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 10, Spastic paraplegia
RS374555589 SCN1A Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS374555701 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS374556359 ERCC4 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group F
RS374557801 SCN5A Health Risk Likely pathogenic Long QT syndrome 3, Long QT syndrome 3
RS374558153 TPO Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS374558503 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS374559000 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS374560108 PYGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type VI
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