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
RS754205211 COL11A2 Health Risk Conflicting classifications of pathogenicity Thyroid cancer, nonmedullary
RS754206007 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS754206036 SPTA1 Health Risk Conflicting classifications of pathogenicity Pyropoikilocytosis, hereditary
RS754207859 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS754208063 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS754208553 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS754208625 COL4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies
RS754208761 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS754210695 BAG3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS754211366 DNAH9 Health Risk Pathogenic —
RS754211381 TGFB3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Rienhoff syndrome
RS754211939 MPDZ Health Risk Pathogenic —
RS754212720 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS754213928 TECTA Health Risk Conflicting classifications of pathogenicity —
RS754214624 BCHE Health Risk Pathogenic/Likely pathogenic Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase
RS754215050 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS754215948 SCN1B Health Risk Conflicting classifications of pathogenicity Brugada syndrome 5, Cardiovascular phenotype
RS754216183 FHIP2A Health Risk Conflicting classifications of pathogenicity —
RS754216321 HNRNPU Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 54
RS754217318 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS754217606 MYO3A Health Risk Conflicting classifications of pathogenicity —
RS754218293 ADNP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754219595 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS754219853 FOXRED1 Health Risk Pathogenic —
RS754220610 SLC12A3 Health Risk Pathogenic —
RS754220952 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS754221308 CC2D2A Health Risk Likely pathogenic Joubert syndrome 9, Joubert syndrome
RS754221948 SCN5A Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Cardiac arrhythmia
RS754222130 COL11A1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, COL11A1-related disorder
RS754222633 MTFMT Health Risk Pathogenic/Likely pathogenic Mitochondrial oxidative phosphorylation disorder, Mitochondrial oxidative phosphorylation disorder
RS754222671 LAMB3 Health Risk Pathogenic —
RS754223052 DNMT3A Health Risk Pathogenic Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS754223084 CRPPA Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2U, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS754223700 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, Alport syndrome
RS754223770 STX11 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis 4
RS754225520 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast carcinoma
RS754227127 MYPN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1KK, Cardiovascular phenotype
RS754227553 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS754227627 C8A Health Risk Pathogenic —
RS754228661 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS754229376 CPLANE1 Health Risk Likely pathogenic —
RS754230211 LSS Health Risk Likely pathogenic Alopecia-intellectual disability syndrome 4, Alopecia-intellectual disability syndrome 4
RS754231232 F2 Health Risk Likely pathogenic Prolonged prothrombin time, Prolonged prothrombin time
RS754231971 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS754232612 ABCC8 Health Risk Pathogenic Hyperinsulinemic hypoglycemia, familial
RS754233409 MAP2K2 Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS754233469 CCDC88C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754234374 KIF1B Health Risk Conflicting classifications of pathogenicity Neuroblastoma, Charcot-Marie-Tooth disease type 2
RS754234580 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS75423500 GABRA1 Health Risk Conflicting classifications of pathogenicity Epilepsy, idiopathic generalized
RS754235681 FOXRED1 Health Risk Conflicting classifications of pathogenicity —
RS754237697 PNPT1 Health Risk Conflicting classifications of pathogenicity —
RS754238381 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS754239206 AHDC1 Health Risk Conflicting classifications of pathogenicity —
RS754239335 TRMU Health Risk Conflicting classifications of pathogenicity Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
RS754240018 RFXAP Health Risk Likely pathogenic MHC class II deficiency, MHC class II deficiency 4
RS75424023 EPB42 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
RS754241926 NDUFS2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS754242209 KRT5 Health Risk Conflicting classifications of pathogenicity KRT5-related disorder, KRT5-related disorder
RS754242563 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS754242891 ARID1B Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome 1, Inborn genetic diseases
RS754243426 PROC Health Risk Likely pathogenic Reduced protein C activity, Reduced protein C activity
RS754245019 VPS13A Health Risk Pathogenic —
RS754245181 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS754246294 POLG Health Risk Conflicting classifications of pathogenicity POLG-related disorder, Progressive sclerosing poliodystrophy
RS754246929 RP1 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS754247415 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS754247557 COL17A1 Health Risk Pathogenic Epidermolysis bullosa, junctional 4
RS754247644 DIABLO Health Risk Conflicting classifications of pathogenicity —
RS754248755 FBP1 Health Risk Likely pathogenic Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
RS754249488 CELSR3 Health Risk Conflicting classifications of pathogenicity —
RS754249769 HMCN1 Health Risk Conflicting classifications of pathogenicity —
RS754250122 KCNQ2 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS754250350 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS754250394 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia 1, Glanzmann thrombasthenia
RS754250829 USH2A Health Risk Conflicting classifications of pathogenicity —
RS754250982 TYR Health Risk Pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
RS754251915 CYB5R3 Health Risk Conflicting classifications of pathogenicity Deficiency of cytochrome-b5 reductase, Deficiency of cytochrome-b5 reductase
RS754252285 ABL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754252858 PAX2 Health Risk Conflicting classifications of pathogenicity Renal coloboma syndrome, Focal segmental glomerulosclerosis 7
RS754257195 USH1C Health Risk Likely pathogenic Usher syndrome type 1C, Usher syndrome type 1C
RS754258279 ABHD12 Health Risk Conflicting classifications of pathogenicity Syndromic retinitis pigmentosa, Syndromic retinitis pigmentosa
RS754258764 GNPTAB Health Risk Conflicting classifications of pathogenicity Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS754259099 ARG1 Health Risk Conflicting classifications of pathogenicity Arginase deficiency, Arginase deficiency
RS754259847 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS75426387 STIL Health Risk Conflicting classifications of pathogenicity STIL-related disorder, STIL-related disorder
RS754264874 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS754265614 OCA2 Health Risk Conflicting classifications of pathogenicity —
RS754265941 ACE Health Risk Conflicting classifications of pathogenicity Hemorrhage, intracerebral
RS754266971 AARS1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS754267376 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS754267460 ABCC2 Health Risk Pathogenic/Likely pathogenic ABCC2-related disorder, ABCC2-related disorder
RS754267846 CEP152 Health Risk Pathogenic/Likely pathogenic Microcephaly 9, primary
RS754270436 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BRIP1-related disorder
RS754272410 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS754272530 NEB Health Risk Pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS754272609 EIF2B5 Health Risk Pathogenic Leukoencephalopathy with vanishing white matter 5, Leukoencephalopathy with vanishing white matter 5
RS754273310 ABCA12 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosis of skin, Congenital ichthyosis of skin
RS75427357 SLC5A7 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS75427428 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia 2
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