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
RS764554878 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS764556085 ARID1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764556767 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS764557236 HADHA Health Risk Pathogenic/Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS764559304 EOGT Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 4, Inborn genetic diseases
RS764559444 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS764559670 ATP1A2 Health Risk Conflicting classifications of pathogenicity Alternating hemiplegia of childhood 1, Migraine
RS764560018 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS764560431 SPTB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764561297 HNF1B Health Risk Conflicting classifications of pathogenicity Hyperechogenic kidneys, Maturity-onset diabetes of the young
RS764561670 TRIP11 Health Risk Pathogenic Achondrogenesis, type IA
RS764561909 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS764564256 ABCC8 Health Risk Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS764564753 KCNE5 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Brugada syndrome
RS764565613 TMEM126B Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 29
RS764566232 IBA57 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hereditary spastic paraplegia 74
RS764566414 ABCC2 Health Risk Conflicting classifications of pathogenicity ABCC2-related disorder, ABCC2-related disorder
RS764567774 PGAM2 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type X, Glycogen storage disease type X
RS764568010 IMPG2 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS764568129 DNAJC19 Health Risk Pathogenic 3-methylglutaconic aciduria type 5, 3-methylglutaconic aciduria type 5
RS764568339 EPG5 Health Risk Conflicting classifications of pathogenicity Vici syndrome, Inborn genetic diseases
RS764568533 ACAT1 Health Risk Pathogenic/Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS764568599 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS764569458 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS764569623 GCH1 Health Risk Conflicting classifications of pathogenicity GTP cyclohydrolase I deficiency, Dystonia 5
RS764570434 TECTA Health Risk Conflicting classifications of pathogenicity —
RS764570495 ELAC2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17
RS764570645 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS764571295 CLN6 Health Risk Conflicting classifications of pathogenicity Ceroid lipofuscinosis, neuronal
RS764571605 SPTB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764571894 KCNC3 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 13, Inborn genetic diseases
RS764572758 XPC Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group C
RS764574133 ABCC9 Health Risk Conflicting classifications of pathogenicity Hypertrichotic osteochondrodysplasia Cantu type, Dilated cardiomyopathy 1O
RS764574987 KCNT1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 5, Developmental and epileptic encephalopathy
RS764575492 DLG5 Health Risk Pathogenic Yuksel-Vogel-Bauer syndrome, Yuksel-Vogel-Bauer syndrome
RS764575966 SDHC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 3
RS764576683 CTNNB1 Health Risk Conflicting classifications of pathogenicity —
RS764577626 NANS Health Risk Conflicting classifications of pathogenicity Spondyloepimetaphyseal dysplasia, Genevieve type
RS764577786 KIF14 Health Risk Conflicting classifications of pathogenicity KIF14-related disorder, KIF14-related disorder
RS764578014 MYH3 Health Risk Conflicting classifications of pathogenicity —
RS764578297 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS764579746 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS764579762 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS764580322 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS764581483 ABCB11 Health Risk Pathogenic/Likely pathogenic Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS764581574 LAMA1 Health Risk Pathogenic Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
RS764582394 XPA Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS764583466 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS764583480 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures
RS764583678 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS764583867 ADGRV1 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2C, Febrile seizures
RS764584080 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS764585158 SACS Health Risk Likely pathogenic —
RS764585550 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS76458556 CYB5R3 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental delay, CYB5R3-related disorder
RS764586079 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 1, Autosomal dominant nocturnal frontal lobe epilepsy
RS764587648 COQ8B Health Risk Pathogenic Nephrotic syndrome, type 9
RS764588235 WWOX Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy
RS764588340 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS764588746 ALDH7A1 Health Risk Pathogenic/Likely pathogenic Pyridoxine-dependent epilepsy, Melanoma
RS764589321 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
RS764589468 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS764591009 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS764591027 DHTKD1 Health Risk Pathogenic 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS764591347 SLC26A3 Health Risk Likely pathogenic —
RS764591495 VPS13A Health Risk Likely pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS764592601 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS764592751 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS764593071 SDR9C7 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosis of skin, Ichthyosis
RS764594515 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Cardiovascular phenotype
RS764594811 CNGA1 Health Risk Pathogenic —
RS764595221 SPEN Health Risk Pathogenic Neurodevelopmental abnormality, Radio-Tartaglia syndrome
RS764595344 PAX9 Health Risk Pathogenic Oligodontia, Oligodontia
RS764595667 PPP2CA Health Risk Likely pathogenic Houge-Janssens syndrome 3, Houge-Janssens syndrome 3
RS764596094 PRF1 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis, Familial hemophagocytic lymphohistiocytosis 2
RS764596712 TRIP11 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IA
RS764596973 OPTN Health Risk Pathogenic/Likely pathogenic OPTN-related disorder, Primary open angle glaucoma
RS764597996 SP110 Health Risk Likely pathogenic Hepatic veno-occlusive disease-immunodeficiency syndrome, Hepatic veno-occlusive disease-immunodeficiency syndrome
RS764598023 CYP11B1 Health Risk Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Glucocorticoid-remediable aldosteronism
RS764598121 AGA Health Risk Pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS764599897 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, Juvenile myelomonocytic leukemia
RS76460090 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS764600940 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS764601493 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, familial spinal
RS764601859 KIF21A Health Risk Conflicting classifications of pathogenicity Congenital fibrosis of extraocular muscles type 1, Inborn genetic diseases
RS764601903 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS764601965 MARS1 Health Risk Conflicting classifications of pathogenicity Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U
RS764602074 PCNT Health Risk Pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS764602105 CEP152 Health Risk Pathogenic/Likely pathogenic Seckel syndrome 5, Microcephaly 9
RS764602422 ASL Health Risk Pathogenic/Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS764602570 RYR1 Health Risk Likely pathogenic Congenital multicore myopathy with external ophthalmoplegia, Central core myopathy
RS764602705 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS764603059 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS764603742 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS764603796 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS764604229 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS764605074 COL7A1 Health Risk Pathogenic —
RS764605140 PDE6B Health Risk Pathogenic/Likely pathogenic Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa 40
RS764605841 EIF4A2 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS764605890 GAN Health Risk Conflicting classifications of pathogenicity Giant axonal neuropathy 1, Inborn genetic diseases
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