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 | 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 | |
| rs10804920 | TP63 TP63 oocyte apoptosis checkpoint variant | Intronic variant in TP63 (p63), the master DNA-damage checkpoint gene in prim... | Gamete Quality & DNA Repair | 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 | Emerging | |
| rs116098458 | KIF2B | Rare intronic variant in a lncRNA antisense to KIF2B (chromosome 17q22), iden... | Gamete Quality & DNA Repair | Moderate | |
| rs10835638 | FSHB c.-211G>T | Promoter variant reducing FSH beta-subunit transcription by ~50%, lowering se... | Fertility & Ovarian Function | 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 | Strong | |
| rs10848087 | PIWIL1 PIWIL1 G>A (c.1128G>A) | Synonymous variant in PIWIL1 associated with increased epithelial ovarian can... | Fertility & Ovarian Function | Emerging | |
| 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 | |
| rs12470652 | LHCGR Asn291Ser (N291S) | Missense variant in the LH/hCG receptor producing a gain-of-function increase... | Fertility & Ovarian Function | Moderate | |
| 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 | |
| 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 | |
| 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; the A allele tags reduced ER... | Fertility & Ovarian Function | Strong | |
| rs2307449 | POLG | Intronic variant in POLG (mitochondrial DNA polymerase gamma) on chromosome 1... | Gamete Quality & DNA Repair | 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 | |
| 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 | |
| rs3734637 | HEY2 | A 3'UTR regulatory variant in HEY2, a Notch signaling transcription factor ex... | Gamete Quality & DNA Repair | Emerging | |
| 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 | |
| rs853854 | MAPRE1 MAPRE1/EB1 Spindle Stability | An intronic PCOS susceptibility variant in MAPRE1 (chromosome 20q11.21) ident... | Gamete Quality & 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 | 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 | |
| rs2531693353 | HSD17B4 c.715-1G>A (splice acceptor) | Rare splice acceptor variant disrupting intron 9 of D-bifunctional protein; b... | Metabolic Enzymes & Rare Disorders | Established | |
| rs4944653 | PRSS23 PRSS23 Ovarian Serine Protease | An intergenic tag SNP ~50 kb downstream of PRSS23 (serine protease 23) on chr... | Fertility & Ovarian Function | Moderate | |
| rs4806660 | TMEM150B | Intronic variant in TMEM150B (19q13.42) associated with age at natural menopa... | Endometriosis & Uterine Health | Strong | |
| rs6165 | FSHR Ala307Thr (T307A) | Missense variant in the extracellular domain of the FSH receptor that removes... | Fertility & Ovarian Function | Strong | |
| rs2253310 | FOXO3 | Intronic FOXO3 longevity variant; C allele (minor in East Asians) associated ... | Longevity & Aging | 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 | 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 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 |