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
RS1064793285 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1064793286 TUBA1A Health Risk Pathogenic/Likely pathogenic Tubulinopathy, Rare genetic intellectual disability
RS1064793287 USH2A Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Usher syndrome
RS1064793288 USH2A Health Risk Likely pathogenic —
RS1064793289 USH2A Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 39
RS1064793292 WAS Health Risk Pathogenic —
RS1064793293 WAS Health Risk Pathogenic Wiskott-Aldrich syndrome, Thrombocytopenia 1
RS1064793294 WDR45 Health Risk Pathogenic/Likely pathogenic Neurodegeneration with brain iron accumulation 5, Inborn genetic diseases
RS1064793295 XRCC2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1064793297 XRCC2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1064793298 ZAP70 Health Risk Likely pathogenic —
RS1064793302 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, BRCA1-related cancer predisposition
RS1064793307 UBE3A Health Risk Pathogenic Angelman syndrome, UBE3A-related disorder
RS1064793308 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1064793309 BRCA1 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS1064793313 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1064793315 SCN1A Health Risk Likely pathogenic —
RS1064793317 KCNQ2 Health Risk Pathogenic —
RS1064793324 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1064793325 PTEN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1064793326 SCN5A Health Risk Conflicting classifications of pathogenicity —
RS1064793329 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Malignant tumor of breast
RS1064793330 CHEK2 Health Risk Conflicting classifications of pathogenicity CHEK2-related cancer predisposition, Prostate cancer
RS1064793332 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1064793334 KCNQ2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1064793335 DOCK8 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1064793336 NSD1 Health Risk Pathogenic —
RS1064793337 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Familial cancer of breast
RS1064793338 IL2RG Health Risk Pathogenic —
RS1064793340 ZAP70 Health Risk Pathogenic —
RS1064793341 SCN1A Health Risk Pathogenic —
RS1064793342 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1064793345 PTEN Health Risk Likely pathogenic Macrocephaly-autism syndrome, Cowden syndrome 1
RS1064793346 CHD7 Health Risk Pathogenic CHARGE syndrome, CHD7-related disorder
RS1064793347 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, Combined immunodeficiency
RS1064793348 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1064793349 PIK3CA Health Risk Pathogenic/Likely pathogenic Megalencephaly-capillary malformation-polymicrogyria syndrome, PIK3CA related overgrowth syndrome
RS1064793350 SERPING1 Health Risk Likely pathogenic —
RS1064793351 KDM6A Health Risk Pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS1064793352 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS1064793353 CASR Health Risk Pathogenic —
RS1064793355 ZDHHC9 Health Risk Likely pathogenic —
RS1064793356 RPS6KA3 Health Risk Likely pathogenic —
RS1064793357 BRCA1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1064793358 ANO5 Health Risk Pathogenic Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS1064793359 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS1064793360 DAG1 Health Risk Pathogenic —
RS1064793361 NSD1 Health Risk Pathogenic —
RS1064793363 APC Health Risk Pathogenic —
RS1064793365 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS1064793367 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1064793368 KCNH2 Health Risk Likely pathogenic —
RS1064793373 RMRP Health Risk Conflicting classifications of pathogenicity Metaphyseal chondrodysplasia, McKusick type
RS1064793374 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1064793376 CDKL5 Health Risk Pathogenic —
RS1064793377 ATP8A2 Health Risk Likely pathogenic Cerebellar ataxia, intellectual disability
RS1064793378 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1064793380 RAD21 Health Risk Pathogenic —
RS1064793381 CDKL5 Health Risk Pathogenic —
RS1064793383 MEIS2 Health Risk Likely pathogenic Cardiac malformation, cleft lip/palate
RS1064793384 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1064793390 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1064793391 SUMF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Multiple sulfatase deficiency
RS1064793392 KCNQ2 Health Risk Likely pathogenic KCNQ2-related disorder, KCNQ2-related disorder
RS1064793394 COL6A2 Health Risk Pathogenic —
RS1064793395 EFTUD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1064793397 CHRNA1 Health Risk Pathogenic/Likely pathogenic Lethal multiple pterygium syndrome, Congenital myasthenic syndrome 1A
RS1064793398 MEN1 Health Risk Likely pathogenic —
RS1064793399 C2CD3 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1064793402 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1064793403 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1064793405 FANCC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group C
RS1064793406 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1064793411 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1064793412 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1064793413 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1064793414 STXBP1 Health Risk Pathogenic —
RS1064793417 KRT6A Health Risk Pathogenic —
RS1064793419 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1064793421 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1064793426 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 4
RS1064793427 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS1064793428 GCK Health Risk Pathogenic —
RS1064793429 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Cardiomyopathy
RS1064793430 ACAD8 Health Risk Pathogenic —
RS1064793432 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1064793433 KANSL1 Health Risk Pathogenic —
RS1064793434 KCNH2 Health Risk Pathogenic Long QT syndrome, Cardiovascular phenotype
RS1064793435 DSP Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1064793437 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1064793438 EFNB1 Health Risk Pathogenic —
RS1064793444 ACTB Health Risk Pathogenic/Likely pathogenic Baraitser-Winter syndrome 1, ACTB-related BAFopathy
RS1064793447 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1064793448 MYL3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS1064793449 MYT1L Health Risk Pathogenic —
RS1064793451 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS1064793452 STAT3 Health Risk Pathogenic —
RS1064793459 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS1064793461 PHEX Health Risk Pathogenic —
RS1064793462 WDR62 Health Risk Likely pathogenic —
« Prev 1 ... 103 104 105 106 107 108 109 ... 4509 Next »

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

Get Started Free →