|
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
|
|
rs28416520
|
PIWIL1
PIWIL1 piRNA Pathway Variant
|
A regulatory variant upstream of PIWIL1 on chromosome 12, in a CpG region of ...
|
Fertility & Ovarian Function
|
|
Moderate
|
|
rs1935949
|
FOXO3
|
Second independent FOXO3 longevity signal tagging a distinct intronic haploty...
|
Longevity & Aging
|
|
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
|