Research
Tag

Menopause

33 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 Strong
rs1046089 PRRC2A Arg1740His Missense variant in PRRC2A (HLA-B associated transcript) linked to age at nat... Fertility & Ovarian Function Strong
rs116098458 KIF2B Rare intronic variant in a lncRNA antisense to KIF2B (chromosome 17q22), iden... Gamete Quality & DNA Repair Moderate
rs12651246 HELQ HELQ Helicase Meiotic Repair Variant An intronic variant in HELQ (helicase, POLQ-like) on chromosome 4q21.23; the ... Gamete Quality & DNA Repair Strong
rs1635501 EXO1 EXO1 rs1635501 Intronic variant in EXO1 (exonuclease 1), a DNA mismatch repair and meiotic r... Gamete Quality & DNA Repair Strong
rs1172816 BRSK1 BRSK1 Ovarian Reserve Variant Intronic variant in BRSK1 (BR serine/threonine kinase 1) on chromosome 19q13.... Fertility & Ovarian Function Strong
rs2147349 XPO4 Intronic variant in XPO4 (chromosome 13q12.11) at a locus associated with age... Gamete Quality & DNA Repair Moderate
rs12206094 FOXO3 Functional FOXO3 intronic variant with allele-specific CTCF binding and IGF-1... Longevity & Aging Strong
rs2277339 PRIM1 PRIM1 Asp5Ala missense variant Missense variant in PRIM1 (DNA primase small subunit) that changes aspartate ... Gamete Quality & DNA Repair Strong
rs12212067 FOXO3 Intronic FOXO3 variant whose minor G allele creates an MZF1 transcription fac... Longevity & Aging Strong
rs16991615 MCM8 E341K Missense variant in the MCM8 DNA repair helicase associated with ovarian rese... Fertility & Ovarian Function Strong
rs2153157 SYCP2L SYCP2L splice-efficiency variant Intronic SYCP2L variant in a U12-type minor intron; the A allele splices more... Fertility & Ovarian Function Strong
rs13217795 FOXO3 Original 2008 Willcox longevity discovery variant; C allele tags the protecti... Longevity & Aging Strong
rs2307449 POLG Intronic variant in POLG (mitochondrial DNA polymerase gamma) on chromosome 1... Gamete Quality & DNA Repair Strong
rs236114 MCM8 Intronic variant in MCM8 (minichromosome maintenance 8 helicase) on chromosom... Gamete Quality & DNA Repair Strong
rs244715 ZNF346 Intronic variant in ZNF346 (chromosome 5q35.2), a proxy SNP for the UIMC1/RAP... Gamete Quality & DNA Repair 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 Strong
rs2747648 ESR1 ESR1 3′UTR miR-453 site 3'UTR variant in estrogen receptor alpha that alters miR-453 binding affinity... Reproductive Hormones Moderate
rs2303369 FNDC4 Intronic variant in FNDC4 (fibronectin type III domain containing 4) on chrom... 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
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
rs3750243 EIF4EBP1 EIF4EBP1 mTOR Pathway Variant Regulatory variant 2 kb upstream of EIF4EBP1 (encoding 4E-BP1, a direct mTOR ... Fertility & Ovarian Function Strong
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
rs2253310 FOXO3 Intronic FOXO3 longevity variant; C allele (minor in East Asians) associated ... Longevity & Aging Moderate
rs727479 CYP19A1 Intronic eQTL variant in the aromatase gene CYP19A1; the minor C allele is th... Reproductive Hormones Strong
rs9348724 SYCP2L SYCP2L synaptonemal complex variant Regulatory variant 2 kb upstream of SYCP2L; each copy of the minor C allele a... 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
rs2234693 ESR1 PvuII Estrogen receptor alpha intron variant affecting receptor expression and estr... Hormones & Sleep Moderate
rs2764264 FOXO3 Intronic FOXO3 variant that disrupts an NKX3 transcription factor binding sit... Longevity & Aging Strong
rs2802292 FOXO3 Longevity-associated intronic enhancer variant with 1.9-fold increased probab... Longevity & Aging Established
rs4946935 FOXO3 Functionally validated FOXO3 intronic variant that creates an SRF binding sit... Longevity & Aging Strong