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	Double-Strand Break Repair	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	Double-Strand Break Repair	Strong
rs1805362	MRE11	Missense variant in MRE11 (p.Met698Val, T>C on plus strand) at a poorly conse...	Gamete Quality & DNA Repair	Double-Strand Break Repair	Moderate
rs1805794	NBN E185Q	Component of the MRN complex essential for DNA double-strand break repair, te...	Cancer Risk	Double-Strand Break Repair	Strong
rs236114	MCM8	Intronic variant in MCM8 (minichromosome maintenance 8 helicase) on chromosom...	Gamete Quality & DNA Repair	Double-Strand Break 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	Double-Strand Break Repair	Strong
rs555607708	CHEK2 1100delC	Frameshift deletion in the CHEK2 checkpoint kinase that abolishes kinase acti...	Cancer Risk	Double-Strand Break Repair	Established
rs1950897	RAD51B RAD51B Intronic RA Susceptibility Variant	Intronic variant in RAD51B on chromosome 14; the T allele is associated with ...	Allergy & Atopic Disease	Double-Strand Break Repair	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	Double-Strand Break Repair	Emerging