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
RS759270131 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS759270179 SURF1 Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS759270191 GALT Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Inborn genetic diseases
RS759270956 HNF1B Health Risk Uncertain significance/Uncertain risk allele Renal cysts and diabetes syndrome, Type 2 diabetes mellitus
RS759271567 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS759271754 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS759272365 MYO7A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759272412 PLEKHG5 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS759272453 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS759273327 RNASEH2B Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 2, RNASEH2B-related disorder
RS759273810 OTOF Health Risk Conflicting classifications of pathogenicity —
RS759274091 CFAP221 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Young syndrome
RS759274173 SPTAN1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS759274321 CACNA1D Health Risk Conflicting classifications of pathogenicity Sinoatrial node dysfunction and deafness, Sinoatrial node dysfunction and deafness
RS759274835 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Duchenne muscular dystrophy
RS759276455 DCTN1 Health Risk Conflicting classifications of pathogenicity Perry syndrome, Neuronopathy
RS759278527 SIGLEC1 Health Risk Conflicting classifications of pathogenicity —
RS759278634 DPM1 Health Risk Pathogenic Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E
RS759280111 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS759281545 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS759282487 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS759284353 SOX10 Health Risk Conflicting classifications of pathogenicity —
RS759284466 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS759284625 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS759284637 GALK1 Health Risk Conflicting classifications of pathogenicity Deficiency of galactokinase, Deficiency of galactokinase
RS759284746 SGCA Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2D, Arrhythmogenic right ventricular cardiomyopathy
RS759285011 FANCG Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group G
RS759285400 NCF2 Health Risk Likely pathogenic Granulomatous disease, chronic
RS759285960 C7 Health Risk Likely pathogenic —
RS759285961 SETD5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759286038 GNPAT Health Risk Likely pathogenic —
RS759287238 BBS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 1, Bardet-Biedl syndrome
RS759287748 COL11A1 Health Risk Conflicting classifications of pathogenicity Hearing loss, autosomal dominant 37
RS759288477 SMAD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Myhre syndrome
RS759289904 SLC6A1 Health Risk Conflicting classifications of pathogenicity Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS759290047 RNF43 Health Risk Conflicting classifications of pathogenicity Hyperplastic polyposis syndrome, Hyperplastic polyposis syndrome
RS759291514 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS759291863 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS759292330 FLCN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome 1
RS759292615 RAD51C Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS759292700 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS759293027 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS759293889 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS759295912 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS759295985 ARSA Health Risk Conflicting classifications of pathogenicity Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS759296053 COL13A1 Health Risk Likely pathogenic Congenital myasthenic syndrome 19, Congenital myasthenic syndrome 19
RS759296326 FLVCR2 Health Risk Pathogenic Fowler syndrome, Fowler syndrome
RS759297459 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS759297874 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759299299 SETX Health Risk Likely pathogenic Spinocerebellar ataxia, autosomal recessive
RS759299855 AARS2 Health Risk Likely pathogenic Leukoencephalopathy, progressive
RS759300253 TSHR Health Risk Conflicting classifications of pathogenicity Hypothyroidism due to TSH receptor mutations, Hypothyroidism due to TSH receptor mutations
RS759300542 ABCG8 Health Risk Conflicting classifications of pathogenicity Sitosterolemia 1, Gallbladder disease 4
RS759300846 CUL7 Health Risk Pathogenic/Likely pathogenic 3M syndrome 1, 3-M syndrome
RS759300872 TNPO3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1F, Inborn genetic diseases
RS759301135 KCNJ1 Health Risk Conflicting classifications of pathogenicity Bartter disease type 2, Bartter disease type 2
RS759302236 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia 7, Primary ciliary dyskinesia 7
RS759302795 CSF3R Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
RS759303096 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS759305120 COL4A2 Health Risk Conflicting classifications of pathogenicity Porencephaly 2, Hemorrhage
RS759305139 ARSL Health Risk Conflicting classifications of pathogenicity Chondrodysplasia punctata, brachytelephalangic
RS759305806 CSRP3 Health Risk Pathogenic Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M
RS759306219 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS759307070 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS759308812 ALG6 Health Risk Pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS759309620 CD2AP Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 3, susceptibility to
RS759310053 CCDC88C Health Risk Conflicting classifications of pathogenicity —
RS759310217 CHAT Health Risk Conflicting classifications of pathogenicity Familial infantile myasthenia, Familial infantile myasthenia
RS759310292 COQ2 Health Risk Conflicting classifications of pathogenicity Coenzyme Q10 deficiency, primary
RS759311161 TAT Health Risk Conflicting classifications of pathogenicity Tyrosinemia type II, Tyrosinemia type II
RS759311192 OPTN Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 12, Primary open angle glaucoma
RS759311241 MOCS1 Health Risk Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS759312184 DBT Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease
RS759312530 LRSAM1 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS759312873 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS759313804 AGPS Health Risk Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3
RS759314410 FANCG Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group G
RS759314800 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS759315432 IL17RA Health Risk Likely pathogenic Immunodeficiency 51, Immunodeficiency 51
RS759315662 NBAS Health Risk Conflicting classifications of pathogenicity Infantile liver failure syndrome 2, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
RS759315897 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS759315924 GPR143 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759316372 COL25A1 Health Risk Likely pathogenic Fibrosis of extraocular muscles, congenital
RS759316719 SGCG Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS759316958 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759316967 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS759317223 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS759317757 OTUD6B Health Risk Pathogenic Intellectual disability, Epilepsy
RS759317891 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS759318152 SRD5A2 Health Risk Pathogenic/Likely pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
RS759319348 CDK4 Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant
RS759320891 DES Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Desmin-related myofibrillar myopathy
RS759320963 YARS2 Health Risk Likely pathogenic —
RS759321222 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS75932146 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS759322344 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS759322460 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS759323371 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS759324522 HNF4A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS759325090 TRAPPC11 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type R18, Inborn genetic diseases
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