Tag

DNA Repair

47 genetic variants with this tag.

RSID	Gene	Description	Category
rs10183486	TLK1	Intronic variant in TLK1 (tousled like kinase 1), a DNA-damage-repair and chr...	Gamete Quality & DNA Repair	DNA Repair	Strong
rs11571833	BRCA2 K3326X	Moderate-penetrance stop-gain variant truncating the last 93 amino acids of B...	Cancer Risk	DNA Repair	Strong
rs10804920	TP63 TP63 oocyte apoptosis checkpoint variant	Intronic variant in TP63 (p63), the master DNA-damage checkpoint gene in prim...	Gamete Quality & DNA Repair	DNA Repair	Strong
rs16941	BRCA1 E1038G	Common missense variant in BRCA1 with debated association to modest breast ca...	Cancer Risk	DNA Repair	Moderate
rs17879961	CHEK2 I157T	Missense variant in the CHEK2 FHA domain that impairs phosphoprotein binding ...	Cancer Risk	DNA 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	DNA Repair	Strong
rs1799782	XRCC1 R194W	Missense variant in the linker region of XRCC1 that disrupts interaction with...	Cancer Risk	DNA Repair	Strong
rs1635501	EXO1 EXO1 rs1635501	Intronic variant in EXO1 (exonuclease 1), a DNA mismatch repair and meiotic r...	Gamete Quality & DNA Repair	DNA Repair	Strong
rs1799793	ERCC2 D312N	Missense variant in the XPD helicase that reduces nucleotide excision repair ...	Cancer Risk	DNA Repair	Strong
rs11212617	ATM	Intronic variant near the ATM gene affecting metformin's activation of AMPK; ...	Longevity & Aging	DNA Repair	Moderate
rs1799950	BRCA1 Q356R	Common missense variant near the BRCA1 RING finger domain; associated with mo...	Cancer Risk	DNA Repair	Moderate
rs1799977	MLH1 Ile219Val	Missense variant in the MLH1 ATPase domain (c.655A>G, p.Ile219Val) that subst...	Gamete Quality & DNA Repair	DNA Repair	Moderate
rs1136410	PARP1 Val762Ala	Missense variant in the PARP1 catalytic domain that reduces enzymatic activit...	Longevity & Aging	DNA Repair	Strong
rs1172816	BRSK1 BRSK1 Ovarian Reserve Variant	Intronic variant in BRSK1 (BR serine/threonine kinase 1) on chromosome 19q13....	Fertility & Ovarian Function	DNA Repair	Strong
rs1800734	MLH1 -93G>A	Promoter variant in the MLH1 DNA mismatch repair gene that reduces transcript...	Cancer Risk	DNA Repair	Strong
rs1805362	MRE11	Missense variant in MRE11 (p.Met698Val, T>C on plus strand) at a poorly conse...	Gamete Quality & DNA Repair	DNA Repair	Moderate
rs1800975	XPA A23G	5' UTR variant in the XPA DNA damage recognition gene that modulates nucleoti...	Cancer Risk	DNA Repair	Strong
rs2147349	XPO4	Intronic variant in XPO4 (chromosome 13q12.11) at a locus associated with age...	Gamete Quality & DNA Repair	DNA Repair	Moderate
rs1805794	NBN E185Q	Component of the MRN complex essential for DNA double-strand break repair, te...	Cancer Risk	DNA Repair	Strong
rs2277339	PRIM1 PRIM1 Asp5Ala missense variant	Missense variant in PRIM1 (DNA primase small subunit) that changes aspartate ...	Gamete Quality & DNA Repair	DNA Repair	Strong
rs16991615	MCM8 E341K	Missense variant in the MCM8 DNA repair helicase associated with ovarian rese...	Fertility & Ovarian Function	DNA Repair	Strong
rs2303428	MSH2	Splice-region variant in MSH2 (c.2006-6T>C) located 6 bases upstream of exon ...	Gamete Quality & DNA Repair	DNA Repair	Moderate
rs2228000	XPC Ala499Val	Missense variant in the DNA damage recognition gene XPC that moderately reduc...	Cancer Risk	DNA Repair	Moderate
rs13181	ERCC2 Lys751Gln	Missense variant in the XPD helicase that reduces nucleotide excision repair ...	Longevity & Aging	DNA Repair	Strong
rs2307449	POLG	Intronic variant in POLG (mitochondrial DNA polymerase gamma) on chromosome 1...	Gamete Quality & DNA Repair	DNA Repair	Strong
rs236114	MCM8	Intronic variant in MCM8 (minichromosome maintenance 8 helicase) on chromosom...	Gamete Quality & DNA Repair	DNA Repair	Strong
rs25487	XRCC1 R399Q	Base excision repair scaffold protein that coordinates repair of oxidative DN...	Cancer Risk	DNA Repair	Strong
rs244715	ZNF346	Intronic variant in ZNF346 (chromosome 5q35.2), a proxy SNP for the UIMC1/RAP...	Gamete Quality & DNA Repair	DNA Repair	Strong
rs34612342	MUTYH Y179C	Most common pathogenic MUTYH variant; biallelic carriers develop MUTYH-Associ...	Cancer Risk	DNA Repair	Established
rs353478	UIMC1 UIMC1 DNA Damage Response Variant	An intronic variant in UIMC1 (RAP80), the core ubiquitin-binding subunit of t...	Gamete Quality & DNA Repair	DNA Repair	Strong
rs36053993	MUTYH G396D	Second most common pathogenic MUTYH variant; biallelic carriers develop MUTYH...	Cancer Risk	DNA Repair	Established
rs3734637	HEY2	A 3'UTR regulatory variant in HEY2, a Notch signaling transcription factor ex...	Gamete Quality & DNA Repair	DNA Repair	Emerging
rs555607708	CHEK2 1100delC	Frameshift deletion in the CHEK2 checkpoint kinase that abolishes kinase acti...	Cancer Risk	DNA Repair	Established
rs1801516	ATM D1853N	Missense variant in the ATM DNA-damage kinase associated with increased radia...	Longevity & Aging	DNA Repair	Moderate
rs2303369	FNDC4	Intronic variant in FNDC4 (fibronectin type III domain containing 4) on chrom...	Fertility & Ovarian Function	DNA Repair	Strong
rs4987188	MSH2 Gly322Asp	Missense variant in the MSH2 connector domain (c.965G>A, p.Gly322Asp) that su...	Gamete Quality & DNA Repair	DNA Repair	Moderate
rs2297440	RTEL1 RTEL1 telomere maintenance variant	Intronic variant in RTEL1 (Regulator of Telomere Elongation Helicase 1) on ch...	TNF, NF-kB & Inflammatory Cytokines	DNA Repair	Moderate
rs72755295	EXO1 EXO1 mismatch repair variant	Intronic regulatory variant in EXO1 (exonuclease 1) that increases EXO1 enhan...	Gamete Quality & DNA Repair	DNA Repair	Moderate
rs9796	INO80 INO80 3'UTR Variant	A 3'UTR variant in INO80 that is associated with delayed ovarian ageing; the ...	Gamete Quality & DNA Repair	DNA Repair	Moderate
rs2228001	XPC Lys939Gln	Missense variant in the DNA damage recognition gene XPC that reduces global-g...	Fitness & Body	DNA Repair	Strong
rs350845	SIRT6	Intronic eQTL in SIRT6 where the rare A allele upregulates SIRT6 expression a...	Longevity & Aging	DNA Repair	Moderate
rs1885013	RAD51B RAD51B Rheumatoid Arthritis Variant	Intronic variant in RAD51B (RAD51 paralog B), a DNA double-strand break repai...	Allergy & Atopic Disease	DNA Repair	Moderate
rs1950897	RAD51B RAD51B Intronic RA Susceptibility Variant	Intronic variant in RAD51B on chromosome 14; the T allele is associated with ...	Allergy & Atopic Disease	DNA Repair	Strong
rs9420907	OBFC1	Intronic variant in the CST complex component STN1/OBFC1 that influences telo...	Longevity & Aging	DNA Repair	Strong
rs6062486	RTEL1 Telomere helicase immune variant	Intronic variant in RTEL1 (regulator of telomere elongation helicase 1) assoc...	Allergy & Atopic Disease	DNA Repair	Strong
rs911263	RAD51B RAD51B RA Proxy Variant	Intronic proxy variant in RAD51B associated with seropositive rheumatoid arth...	Allergy & Atopic Disease	DNA Repair	Moderate
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	DNA Repair	Emerging