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
RS758352523 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS758352741 EVC Health Risk Conflicting classifications of pathogenicity Curry-Hall syndrome, Ellis-van Creveld syndrome
RS758354862 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS758354863 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758354898 KDM1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758355520 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS758356262 MKKS Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, McKusick-Kaufman syndrome
RS758357594 TBK1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS758357747 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS758357853 PEPD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758360637 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS758361270 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS758361736 KIF7 Health Risk Conflicting classifications of pathogenicity 7 conditions, Acrocallosal syndrome
RS758362004 KMT2E Health Risk Conflicting classifications of pathogenicity O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome
RS758362162 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS758362908 ERCC4 Health Risk Pathogenic Xeroderma pigmentosum, group F
RS758363294 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS758363727 LARS1 Health Risk Likely pathogenic Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
RS758366698 DIS3L2 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Perlman syndrome
RS758367100 SMARCAL1 Health Risk Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS758368552 ST3GAL5 Health Risk Conflicting classifications of pathogenicity GM3 synthase deficiency, Inborn genetic diseases
RS758368974 VPS13D Health Risk Pathogenic/Likely pathogenic Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
RS758369264 RPS7 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia 8, Diamond-Blackfan anemia 8
RS758369648 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS758370815 RTN2 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS758372631 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758373595 LMNB2 Health Risk Conflicting classifications of pathogenicity Lipodystrophy, partial
RS758375129 WNT10B Health Risk Pathogenic —
RS758375991 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS758376049 ORC6 Health Risk Conflicting classifications of pathogenicity Meier-Gorlin syndrome 3, Meier-Gorlin syndrome 3
RS758376967 COL6A3 Health Risk Conflicting classifications of pathogenicity Tip-toe gait, Bethlem myopathy 1A
RS758377868 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS758378706 SPTA1 Health Risk Likely pathogenic SPTA1-related disorder, SPTA1-related disorder
RS758378927 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS758379595 CLCN2 Health Risk Pathogenic Familial hyperaldosteronism type II, Familial hyperaldosteronism type II
RS758379604 SYNE1 Health Risk Likely pathogenic Autosomal recessive ataxia, Beauce type
RS758379697 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS758379999 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS758380315 FANCE Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group E, Inborn genetic diseases
RS758380334 STN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758380663 TGM1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS758381112 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS758382198 CDH23 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 12, Pituitary adenoma 5
RS758384536 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, FANCA-related disorder
RS758384659 MYO18B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758384953 ACVRL1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Telangiectasia
RS758385503 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, 17p11.2 microduplication syndrome
RS758385553 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS758386187 CREBBP Health Risk Conflicting classifications of pathogenicity CREBBP-related disorder, Rubinstein-Taybi syndrome
RS758386212 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS758387062 DCTN1 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS758387065 MC4R Health Risk Conflicting classifications of pathogenicity MC4R-related disorder, MC4R-related disorder
RS758387379 EVC Health Risk Conflicting classifications of pathogenicity Curry-Hall syndrome, Ellis-van Creveld syndrome
RS758387388 IFIH1 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS758389471 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS758389718 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS758390382 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS758391090 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS758391206 WASHC5 Health Risk Likely pathogenic Ritscher-Schinzel syndrome, Hereditary spastic paraplegia 8
RS758391429 RASGRP1 Health Risk Pathogenic —
RS758391601 TCF20 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758391967 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS758392186 CFHR5 Health Risk Likely pathogenic C3 glomerulonephritis, C3 glomerulonephritis
RS758392307 ATP6V1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 93, Autosomal recessive cutis laxa type 2D
RS758392443 GNA11 Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 2, Familial hypocalciuric hypercalcemia 2
RS758393038 SCN8A Health Risk Conflicting classifications of pathogenicity SCN8A-related disorder, Early-infantile DEE
RS758393921 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS758395213 FBXL4 Health Risk Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS758395320 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS758395597 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS758395765 MYH2 Health Risk Pathogenic Myopathy, proximal
RS758396008 NOTCH3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758396206 CBL Health Risk Conflicting classifications of pathogenicity Noonan syndrome and Noonan-related syndrome, Noonan syndrome and Noonan-related syndrome
RS758396296 C2CD3 Health Risk Likely pathogenic —
RS75839697 COX10 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 1
RS758397582 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiac arrhythmia
RS758398301 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS758398310 EIF2B2 Health Risk Pathogenic Premature ovarian insufficiency, Premature ovarian insufficiency
RS758398497 ARSL Health Risk Conflicting classifications of pathogenicity X-linked chondrodysplasia punctata 1, Inborn genetic diseases
RS758398877 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brittle cornea syndrome 1
RS758399311 LZTR1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS758399903 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1G
RS758401922 PRR12 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS758402265 PEX1 Health Risk Pathogenic/Likely pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS758402960 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 4b
RS758403441 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS758404089 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS758404336 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS758404687 DMD Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Duchenne muscular dystrophy
RS758406223 NPHS1 Health Risk Pathogenic/Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS758406790 FAN1 Health Risk Pathogenic Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis
RS758407212 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS758408106 FOXRED1 Health Risk Likely pathogenic Leigh syndrome, Leigh syndrome
RS758409135 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS758409623 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS758409717 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS758410389 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS758410591 WT1 Health Risk Conflicting classifications of pathogenicity Drash syndrome, Wilms tumor 1
RS758410916 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS758411198 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
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