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
RS752189896 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS752191968 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS752192006 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS752192642 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 11
RS752192677 PRX Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS752192756 RYR1 Health Risk Pathogenic RYR1-related disorder, Malignant hyperthermia
RS752193525 AIPL1 Health Risk Likely pathogenic Leber congenital amaurosis, AIPL1-related retinopathy
RS752193945 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS752194597 FGFR3 Health Risk Conflicting classifications of pathogenicity —
RS752194694 GPC3 Health Risk Pathogenic Wilms tumor 1, Wilms tumor 1
RS752195182 ANGPTL3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS752196801 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS752197557 LRP2 Health Risk Likely pathogenic Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS752197734 CEP290 Health Risk Pathogenic Retinal dystrophy, Bardet-Biedl syndrome 14
RS752197838 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS752198747 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS752199191 RYR1 Health Risk Pathogenic/Likely pathogenic Congenital multicore myopathy with external ophthalmoplegia, RYR1-related disorder
RS752199848 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS752200108 TTI2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752200396 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS752201516 OTOF Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS752201545 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Macular degeneration
RS752201749 DDX41 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases
RS752202089 BBS12 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 12
RS752202315 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS752203227 MCM3AP Health Risk Likely pathogenic —
RS752203346 CUL7 Health Risk Pathogenic —
RS752203499 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS752203815 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS752204035 KLF1 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia type 4, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6
RS752204728 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS752205161 MMACHC Health Risk Pathogenic/Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS752205220 GRM6 Health Risk Pathogenic GRM6-related disorder, GRM6-related disorder
RS752206117 SALL1 Health Risk Conflicting classifications of pathogenicity Townes syndrome, Inborn genetic diseases
RS752206330 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS752207334 CEP63 Health Risk Conflicting classifications of pathogenicity Seckel syndrome 6, Familial cancer of breast
RS752207572 SPEN Health Risk Pathogenic Radio-Tartaglia syndrome, Radio-Tartaglia syndrome
RS752207581 WDR62 Health Risk Conflicting classifications of pathogenicity —
RS752208167 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS752208304 SHOX Health Risk Pathogenic Leri-Weill dyschondrosteosis, Leri-Weill dyschondrosteosis
RS752208389 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Idiopathic hypereosinophilic syndrome
RS752208462 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS752209038 REEP2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 72, Inborn genetic diseases
RS752209909 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS752212030 CLN6 Health Risk Pathogenic Ceroid lipofuscinosis, neuronal
RS752212361 MSH6 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS752212460 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, Inborn genetic diseases
RS752212470 CRB1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS752213208 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS752213778 TXNRD2 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiovascular phenotype
RS752216720 ACAT1 Health Risk Pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS752216863 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS752216964 C3 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency
RS752217760 COL2A1 Health Risk Pathogenic —
RS752218005 SLC52A3 Health Risk Pathogenic/Likely pathogenic Brown-Vialetto-van Laere syndrome 1, Brown-Vialetto-van Laere syndrome 1
RS752218424 WDFY3 Health Risk Pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS752218712 ROR2 Health Risk Conflicting classifications of pathogenicity —
RS752219487 HNF1A Health Risk Conflicting classifications of pathogenicity 6 conditions, Maturity-onset diabetes of the young
RS752219824 MPDZ Health Risk Pathogenic —
RS752219939 COQ9 Health Risk Likely pathogenic Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome, Lung cancer
RS752220849 MTR Health Risk Pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS752221563 GABRB3 Health Risk Conflicting classifications of pathogenicity Epilepsy, childhood absence
RS752222200 SLC34A3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease
RS752222356 DNMT3A Health Risk Pathogenic Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS752222583 ABCC8 Health Risk Conflicting classifications of pathogenicity Hereditary hyperinsulinism, Transitory neonatal diabetes mellitus
RS752222954 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS752223388 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS752223599 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS752223894 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS752224921 SYNE1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive ataxia, Beauce type
RS752225290 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS752226674 KMT2C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752226947 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS752227380 SHANK3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752228025 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS752228470 RYR3 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS752229468 POMGNT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS752229880 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS752230253 CERS3 Health Risk Pathogenic Lamellar ichthyosis, Lamellar ichthyosis
RS752230428 CLDN16 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Primary hypomagnesemia
RS752231020 TTC19 Health Risk Likely pathogenic Mitochondrial complex III deficiency nuclear type 2, Mitochondrial complex III deficiency nuclear type 2
RS752231547 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS752232293 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS752232419 OCA2 Health Risk Pathogenic —
RS752232501 COG6 Health Risk Conflicting classifications of pathogenicity COG6-congenital disorder of glycosylation, COG6-related disorder
RS752232577 CP Health Risk Pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase
RS752232600 PGM1 Health Risk Conflicting classifications of pathogenicity PGM1-congenital disorder of glycosylation, PGM1-congenital disorder of glycosylation
RS752232718 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Fumarase deficiency
RS752232888 KCNH1 Health Risk Conflicting classifications of pathogenicity Zimmermann-Laband syndrome 1, Temple-Baraitser syndrome
RS752233230 CPA6 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial
RS752233745 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS752234195 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS752238132 SIX5 Health Risk Conflicting classifications of pathogenicity SIX5-related disorder, Branchiootorenal syndrome 2
RS752238353 RELN Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS752239703 SERAC1 Health Risk Pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy
RS752241086 GRIN2A Health Risk Pathogenic/Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS752241342 SMARCAL1 Health Risk Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS752241362 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS752241422 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS752242512 RDH12 Health Risk Pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis
« Prev 1 ... 3231 3232 3233 3234 3235 3236 3237 ... 4509 Next »

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

Get Started Free →