Research
Tag

Ovarian Reserve

28 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 Moderate
rs10183486 TLK1 Intronic variant in TLK1 (tousled like kinase 1), a DNA-damage-repair and chr... Gamete Quality & DNA Repair Strong
rs1046089 PRRC2A Arg1740His Missense variant in PRRC2A (HLA-B associated transcript) linked to age at nat... Fertility & Ovarian Function Strong
rs10835638 FSHB c.-211G>T Promoter variant reducing FSH beta-subunit transcription by ~50%, lowering se... Fertility & Ovarian Function Strong
rs10848087 PIWIL1 PIWIL1 G>A (c.1128G>A) Synonymous variant in PIWIL1 associated with increased epithelial ovarian can... Fertility & Ovarian Function Emerging
rs2277339 PRIM1 PRIM1 Asp5Ala missense variant Missense variant in PRIM1 (DNA primase small subunit) that changes aspartate ... Gamete Quality & DNA Repair Strong
rs12470652 LHCGR Asn291Ser (N291S) Missense variant in the LH/hCG receptor producing a gain-of-function increase... Fertility & Ovarian Function Moderate
rs16991615 MCM8 E341K Missense variant in the MCM8 DNA repair helicase associated with ovarian rese... Fertility & Ovarian Function Strong
rs244715 ZNF346 Intronic variant in ZNF346 (chromosome 5q35.2), a proxy SNP for the UIMC1/RAP... Gamete Quality & DNA Repair Strong
rs12212067 FOXO3 Intronic FOXO3 variant whose minor G allele creates an MZF1 transcription fac... Longevity & Aging 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 Moderate
rs2153157 SYCP2L SYCP2L splice-efficiency variant Intronic SYCP2L variant in a U12-type minor intron; the A allele splices more... Fertility & Ovarian Function Strong
rs72755295 EXO1 EXO1 mismatch repair variant Intronic regulatory variant in EXO1 (exonuclease 1) that increases EXO1 enhan... Gamete Quality & DNA Repair Moderate
rs13217795 FOXO3 Original 2008 Willcox longevity discovery variant; C allele tags the protecti... Longevity & Aging Strong
rs137853096 HSD17B4 Gly16Ser Pathogenic missense variant in D-bifunctional protein (p.Gly16Ser) disrupting... Metabolic Enzymes & Rare Disorders Established
rs2178575 ERBB4 ERBB4/HER4 PCOS Folliculogenesis An intronic variant in ERBB4 on chromosome 2q34, increasing PCOS susceptibili... Fertility & Ovarian Function Strong
rs2268361 FSHR FSHR Intronic Variant (c.669-5590) Intronic variant in the FSHR gene associated with PCOS susceptibility and FSH... Fertility & Ovarian Function Moderate
rs2303369 FNDC4 Intronic variant in FNDC4 (fibronectin type III domain containing 4) on chrom... Fertility & Ovarian Function Strong
rs1935949 FOXO3 Second independent FOXO3 longevity signal tagging a distinct intronic haploty... Longevity & Aging Moderate
rs28416520 PIWIL1 PIWIL1 piRNA Pathway Variant A regulatory variant upstream of PIWIL1 on chromosome 12, in a CpG region of ... Fertility & Ovarian Function Moderate
rs2153960 FOXO3 Intronic FOXO3 tag SNP whose A allele associates with higher circulating IGF-... Longevity & Aging Moderate
rs4806660 TMEM150B Intronic variant in TMEM150B (19q13.42) associated with age at natural menopa... Endometriosis & Uterine Health Strong
rs4944653 PRSS23 PRSS23 Ovarian Serine Protease An intergenic tag SNP ~50 kb downstream of PRSS23 (serine protease 23) on chr... Fertility & Ovarian Function Moderate
rs6165 FSHR Ala307Thr (T307A) Missense variant in the extracellular domain of the FSH receptor that removes... Fertility & Ovarian Function 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 Strong
rs2764264 FOXO3 Intronic FOXO3 variant that disrupts an NKX3 transcription factor binding sit... Longevity & Aging Strong
rs2802292 FOXO3 Longevity-associated intronic enhancer variant Longevity & Aging Established
rs4946935 FOXO3 Functionally validated FOXO3 intronic variant that creates an SRF binding sit... Longevity & Aging Strong