Tag

DNA Repair

23 genetic variants with this tag.

RSID	Gene	Description	Category
rs555607708	CHEK2 1100delC	Frameshift deletion in the CHEK2 checkpoint kinase that abolishes kinase acti...	Cancer Risk	Cancer Risk DNA Repair Double-Strand Break Repair	Established
rs36053993	MUTYH G396D	Second most common pathogenic MUTYH variant; biallelic carriers develop MUTYH...	Cancer Risk	Cancer Risk DNA Repair Base Excision Repair	Established
rs34612342	MUTYH Y179C	Most common pathogenic MUTYH variant; biallelic carriers develop MUTYH-Associ...	Cancer Risk	Cancer Risk DNA Repair Base Excision Repair	Established
rs1799793	ERCC2 D312N	Missense variant in the XPD helicase that reduces nucleotide excision repair ...	Cancer Risk	Cancer Risk DNA Repair Cancer Screening	Strong
rs16991615	MCM8 E341K	Missense variant in the MCM8 DNA repair helicase associated with ovarian rese...	Fertility & Reproductive Health	Ovarian Reserve Menopause Fertility	Strong
rs25487	XRCC1 R399Q	Base excision repair scaffold protein that coordinates repair of oxidative DN...	Cancer Risk	Cancer Risk DNA Repair Base Excision Repair	Strong
rs1799782	XRCC1 R194W	Missense variant in the linker region of XRCC1 that disrupts interaction with...	Cancer Risk	Cancer Risk DNA Repair Base Excision Repair	Strong
rs11571833	BRCA2 K3326X	Moderate-penetrance stop-gain variant truncating the last 93 amino acids of B...	Cancer Risk	Cancer Risk BRCA DNA Repair	Strong
rs2303369	FNDC4	Intronic variant in FNDC4 (fibronectin type III domain containing 4) on chrom...	Fertility & Reproductive Health	Ovarian Reserve Menopause Fertility	Strong
rs1805794	NBN E185Q	Component of the MRN complex essential for DNA double-strand break repair, te...	Cancer Risk	Cancer Risk DNA Repair Double-Strand Break Repair	Strong
rs350845	SIRT6	Intronic eQTL in SIRT6 where the rare A allele upregulates SIRT6 expression a...	Longevity & Aging	Longevity Aging Telomere Biology	Moderate
rs1800734	MLH1 -93G>A	Promoter variant in the MLH1 DNA mismatch repair gene that reduces transcript...	Cancer Risk	Cancer Risk Mismatch Repair Colorectal Cancer	Strong
rs16941	BRCA1 E1038G	Common missense variant in BRCA1 with debated association to modest breast ca...	Cancer Risk	Cancer Risk BRCA DNA Repair	Moderate
rs1799950	BRCA1 Q356R	Common missense variant near the BRCA1 RING finger domain; associated with mo...	Cancer Risk	Cancer Risk BRCA DNA Repair	Moderate
rs1801516	ATM D1853N	Missense variant in the ATM DNA-damage kinase associated with increased radia...	Longevity & Aging	DNA Repair Radiation Sensitivity Genomic Stability	Moderate
rs1136410	PARP1 Val762Ala	Missense variant in the PARP1 catalytic domain that reduces enzymatic activit...	Longevity & Aging	DNA Repair NAD+ Metabolism Longevity	Strong
rs244715	ZNF346	Intronic variant in ZNF346 (chromosome 5q35.2), a proxy SNP for the UIMC1/RAP...	Fertility & Reproductive Health	Ovarian Reserve Menopause Fertility	Strong
rs10183486	TLK1	Intronic variant in TLK1 (tousled like kinase 1), a DNA-damage-repair and chr...	Fertility & Reproductive Health	Ovarian Reserve Fertility Reproductive Health	Strong
rs13181	ERCC2 Lys751Gln	Missense variant in the XPD helicase that reduces nucleotide excision repair ...	Longevity & Aging	DNA Repair Longevity Aging	Strong
rs1800975	XPA A23G	5' UTR variant in the XPA DNA damage recognition gene that modulates nucleoti...	Cancer Risk	Cancer Risk DNA Repair Pharmacogenomics	Strong
rs11212617	ATM	Intronic variant near the ATM gene affecting metformin's activation of AMPK; ...	Longevity & Aging	Longevity Aging DNA Repair	Moderate
rs2228001	XPC Lys939Gln	Missense variant in the DNA damage recognition gene XPC that reduces global-g...	Fitness & Body	DNA Repair Fitness Recovery	Strong
rs9420907	OBFC1	Intronic variant in the CST complex component STN1/OBFC1 that influences telo...	Longevity & Aging	Telomere Biology Aging Longevity	Strong