Research
Tag

Cancer Screening

11 genetic variants with this tag.

RSID Gene Description Category
rs17879961 CHEK2 I157T Missense variant in the CHEK2 FHA domain that impairs phosphoprotein binding ... Cancer Risk Strong
rs10848087 PIWIL1 PIWIL1 G>A (c.1128G>A) Synonymous variant in PIWIL1 associated with increased epithelial ovarian can... Fertility & Ovarian Function Emerging
rs1799793 ERCC2 D312N Missense variant in the XPD helicase that reduces nucleotide excision repair ... Cancer Risk Strong
rs1799950 BRCA1 Q356R Common missense variant near the BRCA1 RING finger domain; classified as beni... Cancer Risk Moderate
rs1800734 MLH1 -93G>A Promoter variant in the MLH1 DNA mismatch repair gene that reduces transcript... Cancer Risk Strong
rs1867277 FOXE1 c.-283G>A Functional 5' UTR variant in the FOXE1 thyroid transcription factor that incr... Cancer Risk Strong
rs2228000 XPC Ala499Val Missense variant in the DNA damage recognition gene XPC that moderately reduc... Cancer Risk Moderate
rs2279744 MDM2 SNP309 T>G Regulatory variant in the MDM2 promoter that increases Sp1 transcription fact... Cancer Risk Strong
rs25487 XRCC1 R399Q Base excision repair scaffold protein that coordinates repair of oxidative DN... Cancer Risk Strong
rs6983267 8q24 Intergenic enhancer variant near MYC oncogene — modestly increases colorectal... Cancer Risk Established
rs4975605 TERT Intronic TERT variant influencing telomere maintenance, associated with testi... Longevity & Aging Moderate