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rs1062033
|
CYP19A1
|
Intronic regulatory polymorphism in the aromatase gene affecting CYP19A1 tran...
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Hormones & Sleep
|
|
Moderate
|
|
rs11674184
|
GREB1
GREB1 Estrogen-Responsive Endometriosis Variant
|
Intronic GREB1 variant at 2p25.1 where the T allele (GRCh38 reference) is ass...
|
Endometriosis & Uterine Health
|
|
Strong
|
|
rs12722489
|
IL2RA
|
Intronic variant in IL2RA intron 1 that creates an estrogen-responsive enhanc...
|
Autoimmune Tolerance & T-Cell Regulation
|
|
Strong
|
|
rs1159327
|
ESR1
ESR1 intron variant
|
Intronic variant in estrogen receptor alpha associated with bone mineral dens...
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Reproductive Hormones
|
|
Moderate
|
|
rs13394619
|
GREB1
|
Intronic variant in GREB1, an estrogen-responsive gene; the G allele is assoc...
|
Endometriosis & Uterine Health
|
|
Established
|
|
rs1529868
|
GREB1
GREB1 rs1529868
|
Intronic GREB1 variant at 2p25.1 (c.772+34) in high LD (r²=0.853 CEU) with th...
|
Endometriosis & Uterine Health
|
|
Moderate
|
|
rs2414095
|
CYP19A1
|
Intronic variant in the aromatase gene associated with lower circulating estr...
|
Reproductive Hormones
|
|
Strong
|
|
rs2414096
|
CYP19A1
CYP19A1 intron 4 polymorphism
|
Intronic CYP19A1 polymorphism associated with variation in aromatase expressi...
|
Reproductive Hormones
|
|
Moderate
|
|
rs1971256
|
CCDC170
CCDC170/ESR1 Endometriosis Estrogen Signaling Variant
|
Intronic variant in CCDC170 at the 6q25.1 estrogen-signaling locus, co-regula...
|
Endometriosis & Uterine Health
|
|
Strong
|
|
rs2046210
|
ESR1
ESR1 rs2046210
|
Promoter-region variant upstream of estrogen receptor alpha (ESR1) at 6q25.1;...
|
Endometriosis & Uterine Health
|
|
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
|
|
rs2206949
|
ESR1
ESR1 Intronic Endometriosis Variant
|
Intronic variant in the estrogen receptor alpha gene at the 6q25.1 locus inde...
|
Endometriosis & Uterine Health
|
|
Moderate
|
|
rs1799941
|
SHBG
|
Promoter region variant affecting sex hormone-binding globulin levels, with t...
|
Hormones & Sleep
|
|
Strong
|
|
rs700519
|
CYP19A1
Arg264Cys
|
Coding variant in aromatase that substitutes cysteine for arginine at positio...
|
Reproductive Hormones
|
|
Moderate
|
|
rs7167936
|
CYP19A1
CYP19A1 intronic variant
|
Intronic variant near the CYP19A1 promoter region, falling within MIR4713HG b...
|
Reproductive Hormones
|
|
Emerging
|
|
rs2881766
|
ESR1
ESR1 intron variant
|
Intronic variant in estrogen receptor alpha that alters ESR1 expression and h...
|
Vascular Inflammation & Remodeling
|
|
Moderate
|
|
rs727479
|
CYP19A1
|
Intronic eQTL variant in the aromatase gene CYP19A1; the minor C allele is th...
|
Reproductive Hormones
|
|
Strong
|
|
rs1801282
|
PPARG
Pro12Ala
|
Insulin sensitivity - affects how well your cells respond to insulin
|
Fat Storage & Energy
|
|
Established
|
|
rs6557160
|
CCDC170/ESR1
|
Intergenic 6q25.1 variant between CCDC170 and ESR1; the C allele is an eQTL f...
|
Endometriosis & Uterine Health
|
|
Strong
|
|
rs858518
|
SHBG
SHBG intronic regulatory variant
|
Intronic variant within the SHBG gene that participates in a haplotype (with ...
|
Reproductive Hormones
|
|
Moderate
|
|
rs2234693
|
ESR1
PvuII
|
Estrogen receptor alpha intron variant affecting receptor expression and estr...
|
Hormones & Sleep
|
|
Moderate
|
|
rs9340799
|
ESR1
XbaI polymorphism
|
Intronic variant in the estrogen receptor alpha gene (intron 1) associated wi...
|
Reproductive Hormones
|
|
Moderate
|
|
rs73625113
|
ESR1
ESR1 rs73625113
|
An intronic regulatory variant in ESR1 at the 6q25.1 locus identified as a hi...
|
Endometriosis & Uterine Health
|
|
Strong
|
|
rs9383935
|
CCDC170
|
3' UTR variant in CCDC170 at the 6q25.1 estrogen-signaling locus; the T allel...
|
Endometriosis & Uterine Health
|
|
Moderate
|
|
rs700518
|
CYP19A1
Val80
|
Synonymous variant in aromatase gene affecting estrogen production, bone dens...
|
Hormones & Sleep
|
|
Strong
|