Tag

Genomic Stability

13 genetic variants with this tag.

RSID	Gene	Description	Category
rs10773771	PIWIL1 PIWIL1 3'UTR C>T	A 3' UTR variant in PIWIL1 that alters miRNA binding to the transcript and mo...	Fertility & Ovarian Function	Genomic Stability	Emerging
rs10848087	PIWIL1 PIWIL1 G>A (c.1128G>A)	Synonymous variant in PIWIL1 associated with increased epithelial ovarian can...	Fertility & Ovarian Function	Genomic Stability	Emerging
rs1799977	MLH1 Ile219Val	Missense variant in the MLH1 ATPase domain (c.655A>G, p.Ile219Val) that subst...	Gamete Quality & DNA Repair	Genomic Stability	Moderate
rs1805362	MRE11	Missense variant in MRE11 (p.Met698Val, T>C on plus strand) at a poorly conse...	Gamete Quality & DNA Repair	Genomic Stability	Moderate
rs2303428	MSH2	Splice-region variant in MSH2 (c.2006-6T>C) located 6 bases upstream of exon ...	Gamete Quality & DNA Repair	Genomic Stability	Moderate
rs2153157	SYCP2L SYCP2L splice-efficiency variant	Intronic SYCP2L variant in a U12-type minor intron; the A allele splices more...	Fertility & Ovarian Function	Genomic Stability	Strong
rs4987188	MSH2 Gly322Asp	Missense variant in the MSH2 connector domain (c.965G>A, p.Gly322Asp) that su...	Gamete Quality & DNA Repair	Genomic Stability	Moderate
rs1801516	ATM D1853N	Missense variant in the ATM DNA-damage kinase associated with increased radia...	Longevity & Aging	Genomic Stability	Moderate
rs28416520	PIWIL1 PIWIL1 piRNA Pathway Variant	A regulatory variant upstream of PIWIL1 on chromosome 12, in a CpG region of ...	Fertility & Ovarian Function	Genomic Stability	Moderate
rs9348724	SYCP2L SYCP2L synaptonemal complex variant	Regulatory variant 2 kb upstream of SYCP2L; each copy of the minor C allele a...	Fertility & Ovarian Function	Genomic Stability	Strong
rs9393800	SYCP2L SYCP2L GWAS hit for age at natural menopause	Intronic variant in SYCP2L on chromosome 6p24.2; the G allele associates with...	Fertility & Ovarian Function	Genomic Stability	Strong
rs4975605	TERT	Intronic TERT variant influencing telomere maintenance, associated with testi...	Longevity & Aging	Genomic Stability	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	Genomic Stability	Emerging