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
RS377656129 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS377656387 ETFDH Health Risk Pathogenic/Likely pathogenic Glutaric acidemia iic, late-onset
RS377657099 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Autoinflammatory syndrome
RS377657177 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS377657178 B3GLCT Health Risk Conflicting classifications of pathogenicity Peters plus syndrome, Peters plus syndrome
RS377658968 GPSM2 Health Risk Conflicting classifications of pathogenicity Chudley-McCullough syndrome, Chudley-McCullough syndrome
RS377660244 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS377660488 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2Q
RS377660595 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS377661125 ANKRD1 Health Risk Conflicting classifications of pathogenicity ANKRD1-related dilated cardiomyopathy, Cardiovascular phenotype
RS377662483 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS377663039 COL4A5 Health Risk Conflicting classifications of pathogenicity X-linked Alport syndrome, Inborn genetic diseases
RS377663856 SPTBN2 Health Risk Conflicting classifications of pathogenicity —
RS377664288 PCNT Health Risk Pathogenic —
RS377664510 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Congenital multicore myopathy with external ophthalmoplegia
RS377664706 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS377665035 TMPRSS6 Health Risk Conflicting classifications of pathogenicity Microcytic anemia, Microcytic anemia
RS377665383 LHCGR Health Risk Conflicting classifications of pathogenicity Gonadotropin-independent familial sexual precocity, Leydig cell agenesis
RS377665479 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS377666490 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS377667066 TTN Health Risk Conflicting classifications of pathogenicity —
RS377668069 TMC8 Health Risk Likely pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS377668174 COQ5 Health Risk Conflicting classifications of pathogenicity Coenzyme q10 deficiency, primary
RS377668457 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy
RS377668876 FREM1 Health Risk Conflicting classifications of pathogenicity Oculotrichoanal syndrome, FREM1-related disorder
RS377669634 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS377669670 FOXE3 Health Risk Pathogenic/Likely pathogenic Congenital primary aphakia, Anterior segment dysgenesis
RS377669980 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Charcot-Marie-Tooth disease axonal type 2O
RS377670364 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS377670513 MYO7A Health Risk Likely pathogenic Rare genetic deafness, Usher syndrome
RS377670533 FREM1 Health Risk Conflicting classifications of pathogenicity Oculotrichoanal syndrome, Oculotrichoanal syndrome
RS377670601 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive
RS377671796 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS377673145 ABCA1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS377673168 EPB42 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, Inborn genetic diseases
RS377674001 SLC2A1 Health Risk Conflicting classifications of pathogenicity Encephalopathy due to GLUT1 deficiency, GLUT1 deficiency syndrome 1
RS377674360 STRC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377674601 EIF2B5 Health Risk Pathogenic —
RS377675100 SEC24C Health Risk Conflicting classifications of pathogenicity —
RS377676111 LMAN1 Health Risk Conflicting classifications of pathogenicity Factor V and factor VIII, combined deficiency of
RS377679827 AP4S1 Health Risk Likely pathogenic Hereditary spastic paraplegia 52, Hereditary spastic paraplegia 52
RS377679898 MTOR Health Risk Conflicting classifications of pathogenicity Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
RS377682563 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS377684553 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Sotos syndrome
RS377685186 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS377686014 COL27A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377686210 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS377686388 ETFDH Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia type 2C
RS377686759 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS377687237 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS377687329 RHO Health Risk Likely pathogenic —
RS377687939 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS377689004 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS377689383 ATR Health Risk Conflicting classifications of pathogenicity Seckel syndrome 1, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
RS377689621 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS377690160 POLH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Malignant lymphoma
RS377690186 GANAB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Polycystic kidney disease 3 with or without polycystic liver disease
RS377690809 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS377690924 IFT122 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 1, Inborn genetic diseases
RS377691013 DNAH11 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS377691566 CASQ2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 2
RS377693045 PLXNA1 Health Risk Conflicting classifications of pathogenicity —
RS377695856 DDX41 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377697825 TBC1D24 Health Risk Conflicting classifications of pathogenicity Familial infantile myoclonic epilepsy, Inborn genetic diseases
RS377697859 KARS1 Health Risk Conflicting classifications of pathogenicity —
RS377698594 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS377700501 GLI2 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
RS377700521 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, DSC2-related disorder
RS377700689 LMNA Health Risk Conflicting classifications of pathogenicity Familial partial lipodystrophy, Dunnigan type
RS377701196 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Lymphatic malformation 6
RS377702127 EPHB4 Health Risk Pathogenic/Likely pathogenic Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2
RS377702561 MTO1 Health Risk Conflicting classifications of pathogenicity Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Inborn genetic diseases
RS377702881 TTLL5 Health Risk Pathogenic —
RS377703085 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS377706756 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS377707263 PCNT Health Risk Pathogenic —
RS377707922 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, CPLANE1-related disorder
RS377708438 ERCC6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377708532 CBS Health Risk Likely pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS377708973 OTOGL Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, See cases
RS377709493 CFAP53 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377710008 TRRAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377710763 TTN Health Risk Conflicting classifications of pathogenicity —
RS377710972 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS377711159 POC1A Health Risk Conflicting classifications of pathogenicity —
RS377712891 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS377712900 MSH4 Health Risk Pathogenic/Likely pathogenic Premature ovarian insufficiency, Oligospermia
RS377713277 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS377713770 SLC26A4 Health Risk Conflicting classifications of pathogenicity —
RS377714129 PAX8 Health Risk Conflicting classifications of pathogenicity Hypothyroidism, congenital
RS377714939 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, X-linked distal spinal muscular atrophy type 3
RS377715702 TMX2 Health Risk Likely pathogenic Neurodevelopmental disorder with microcephaly, cortical malformations
RS377715841 DSP Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8
RS377715895 DNAH9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, DNAH9-related disorder
RS377716415 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS377716628 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Atrial septal defect 3
RS377718797 ABHD5 Health Risk Conflicting classifications of pathogenicity Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis
RS377719240 LCA5 Health Risk Likely pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS377719435 DOCK7 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 23
RS377720312 MAPT Health Risk Conflicting classifications of pathogenicity MAPT-Related Spectrum Disorders, Frontotemporal dementia
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