Research
Tag

Double-Strand Break Repair

9 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
rs12651246 HELQ HELQ Helicase Meiotic Repair Variant An intronic variant in HELQ (helicase, POLQ-like) on chromosome 4q21.23; the ... Gamete Quality & DNA Repair Strong
rs1805362 MRE11 Missense variant in MRE11 (p.Met698Val, T>C on plus strand) at a poorly conse... Gamete Quality & DNA Repair Moderate
rs1805794 NBN E185Q Component of the MRN complex essential for DNA double-strand break repair, te... Cancer Risk Strong
rs236114 MCM8 Intronic variant in MCM8 (minichromosome maintenance 8 helicase) on chromosom... Gamete Quality & DNA Repair Strong
rs353478 UIMC1 UIMC1 DNA Damage Response Variant An intronic variant in UIMC1 (RAP80), the core ubiquitin-binding subunit of t... Gamete Quality & DNA Repair Strong
rs555607708 CHEK2 1100delC Frameshift deletion in the CHEK2 checkpoint kinase that abolishes kinase acti... Cancer Risk Established
rs1950897 RAD51B RAD51B Intronic RA Susceptibility Variant Intronic variant in RAD51B on chromosome 14; the T allele is associated with ... Allergy & Atopic Disease Strong
rs963917 RAD51B RAD51B Central European RA Variant A 3' UTR variant in RAD51B that alters miRNA-616 binding efficiency and is as... Allergy & Atopic Disease Emerging