Tag

Ovarian Reserve

46 genetic variants with this tag.

RSID	Gene	Description	Category
rs10093345	EIF4EBP1 EIF4EBP1 rs10093345	Intergenic GWAS locus near EIF4EBP1 (encoding the mTOR translation repressor ...	Endometriosis & Uterine Health	Ovarian Reserve	Moderate
rs10183486	TLK1	Intronic variant in TLK1 (tousled like kinase 1), a DNA-damage-repair and chr...	Gamete Quality & DNA Repair	Ovarian Reserve	Strong
rs1046089	PRRC2A Arg1740His	Missense variant in PRRC2A (HLA-B associated transcript) linked to age at nat...	Fertility & Ovarian Function	Ovarian Reserve	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	Ovarian Reserve	Strong
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	Ovarian Reserve	Emerging
rs116098458	KIF2B	Rare intronic variant in a lncRNA antisense to KIF2B (chromosome 17q22), iden...	Gamete Quality & DNA Repair	Ovarian Reserve	Moderate
rs10835638	FSHB c.-211G>T	Promoter variant reducing FSH beta-subunit transcription by ~50%, lowering se...	Fertility & Ovarian Function	Ovarian Reserve	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	Ovarian Reserve	Strong
rs10848087	PIWIL1 PIWIL1 G>A (c.1128G>A)	Synonymous variant in PIWIL1 associated with increased epithelial ovarian can...	Fertility & Ovarian Function	Ovarian Reserve	Emerging
rs1635501	EXO1 EXO1 rs1635501	Intronic variant in EXO1 (exonuclease 1), a DNA mismatch repair and meiotic r...	Gamete Quality & DNA Repair	Ovarian Reserve	Strong
rs1172816	BRSK1 BRSK1 Ovarian Reserve Variant	Intronic variant in BRSK1 (BR serine/threonine kinase 1) on chromosome 19q13....	Fertility & Ovarian Function	Ovarian Reserve	Strong
rs12470652	LHCGR Asn291Ser (N291S)	Missense variant in the LH/hCG receptor producing a gain-of-function increase...	Fertility & Ovarian Function	Ovarian Reserve	Moderate
rs2147349	XPO4	Intronic variant in XPO4 (chromosome 13q12.11) at a locus associated with age...	Gamete Quality & DNA Repair	Ovarian Reserve	Moderate
rs12206094	FOXO3	Functional FOXO3 intronic variant with allele-specific CTCF binding and IGF-1...	Longevity & Aging	Ovarian Reserve	Strong
rs2277339	PRIM1 PRIM1 Asp5Ala missense variant	Missense variant in PRIM1 (DNA primase small subunit) that changes aspartate ...	Gamete Quality & DNA Repair	Ovarian Reserve	Strong
rs12212067	FOXO3	Intronic FOXO3 variant whose minor G allele creates an MZF1 transcription fac...	Longevity & Aging	Ovarian Reserve	Strong
rs16991615	MCM8 E341K	Missense variant in the MCM8 DNA repair helicase associated with ovarian rese...	Fertility & Ovarian Function	Ovarian Reserve	Strong
rs1784692	ZBTB16 ZBTB16/PLZF Ovarian Volume	An intronic variant in the ZBTB16 (PLZF) locus on chromosome 11q23.2; the T a...	Fertility & Ovarian Function	Ovarian Reserve	Moderate
rs2153157	SYCP2L SYCP2L splice-efficiency variant	Intronic SYCP2L variant in a U12-type minor intron; the A allele splices more...	Fertility & Ovarian Function	Ovarian Reserve	Strong
rs13217795	FOXO3	Original 2008 Willcox longevity discovery variant; C allele tags the protecti...	Longevity & Aging	Ovarian Reserve	Strong
rs137853096	HSD17B4 Gly16Ser	Pathogenic missense variant in D-bifunctional protein (p.Gly16Ser) disrupting...	Metabolic Enzymes & Rare Disorders	Ovarian Reserve	Established
rs2178575	ERBB4 ERBB4/HER4 PCOS Folliculogenesis	An intronic variant in ERBB4 on chromosome 2q34; the A allele tags reduced ER...	Fertility & Ovarian Function	Ovarian Reserve	Strong
rs2307449	POLG	Intronic variant in POLG (mitochondrial DNA polymerase gamma) on chromosome 1...	Gamete Quality & DNA Repair	Ovarian Reserve	Strong
rs2268361	FSHR FSHR Intronic Variant (c.669-5590)	Intronic variant in the FSHR gene associated with PCOS susceptibility and FSH...	Fertility & Ovarian Function	Ovarian Reserve	Moderate
rs236114	MCM8	Intronic variant in MCM8 (minichromosome maintenance 8 helicase) on chromosom...	Gamete Quality & DNA Repair	Ovarian Reserve	Strong
rs244715	ZNF346	Intronic variant in ZNF346 (chromosome 5q35.2), a proxy SNP for the UIMC1/RAP...	Gamete Quality & DNA Repair	Ovarian Reserve	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	Ovarian Reserve	Strong
rs3734637	HEY2	A 3'UTR regulatory variant in HEY2, a Notch signaling transcription factor ex...	Gamete Quality & DNA Repair	Ovarian Reserve	Emerging
rs2303369	FNDC4	Intronic variant in FNDC4 (fibronectin type III domain containing 4) on chrom...	Fertility & Ovarian Function	Ovarian Reserve	Strong
rs72755295	EXO1 EXO1 mismatch repair variant	Intronic regulatory variant in EXO1 (exonuclease 1) that increases EXO1 enhan...	Gamete Quality & DNA Repair	Ovarian Reserve	Moderate
rs28416520	PIWIL1 PIWIL1 piRNA Pathway Variant	A regulatory variant upstream of PIWIL1 on chromosome 12, in a CpG region of ...	Fertility & Ovarian Function	Ovarian Reserve	Moderate
rs853854	MAPRE1 MAPRE1/EB1 Spindle Stability	An intronic PCOS susceptibility variant in MAPRE1 (chromosome 20q11.21) ident...	Gamete Quality & DNA Repair	Ovarian Reserve	Moderate
rs1935949	FOXO3	Second independent FOXO3 longevity signal tagging a distinct intronic haploty...	Longevity & Aging	Ovarian Reserve	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	Ovarian Reserve	Moderate
rs3750243	EIF4EBP1 EIF4EBP1 mTOR Pathway Variant	Regulatory variant 2 kb upstream of EIF4EBP1 (encoding 4E-BP1, a direct mTOR ...	Fertility & Ovarian Function	Ovarian Reserve	Strong
rs2531693353	HSD17B4 c.715-1G>A (splice acceptor)	Rare splice acceptor variant disrupting intron 9 of D-bifunctional protein; b...	Metabolic Enzymes & Rare Disorders	Ovarian Reserve	Established
rs4944653	PRSS23 PRSS23 Ovarian Serine Protease	An intergenic tag SNP ~50 kb downstream of PRSS23 (serine protease 23) on chr...	Fertility & Ovarian Function	Ovarian Reserve	Moderate
rs2153960	FOXO3	Intronic FOXO3 tag SNP whose A allele associates with higher circulating IGF-...	Longevity & Aging	Ovarian Reserve	Moderate
rs4806660	TMEM150B	Intronic variant in TMEM150B (19q13.42) associated with age at natural menopa...	Endometriosis & Uterine Health	Ovarian Reserve	Strong
rs6165	FSHR Ala307Thr (T307A)	Missense variant in the extracellular domain of the FSH receptor that removes...	Fertility & Ovarian Function	Ovarian Reserve	Strong
rs2253310	FOXO3	Intronic FOXO3 longevity variant; C allele (minor in East Asians) associated ...	Longevity & Aging	Ovarian Reserve	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	Ovarian Reserve	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	Ovarian Reserve	Strong
rs2764264	FOXO3	Intronic FOXO3 variant that disrupts an NKX3 transcription factor binding sit...	Longevity & Aging	Ovarian Reserve	Strong
rs2802292	FOXO3	Longevity-associated intronic enhancer variant with 1.9-fold increased probab...	Longevity & Aging	Ovarian Reserve	Established
rs4946935	FOXO3	Functionally validated FOXO3 intronic variant that creates an SRF binding sit...	Longevity & Aging	Ovarian Reserve	Strong