Tag

Endometriosis

28 genetic variants with this tag.

RSID	Gene	Description	Category
rs10167914	IL1A IL1A Endometriosis Susceptibility Variant	A regulatory tag SNP in the IL1A/IL1B locus on chromosome 2q13; the G allele ...	Endometriosis & Uterine Health	Endometriosis	Strong
rs10859871	VEZT	Intronic variant near the VEZT (vezatin) gene at 12q22 associated with increa...	Endometriosis & Uterine Health	Endometriosis	Strong
rs11674184	GREB1 GREB1 Estrogen-Responsive Endometriosis Variant	Intronic GREB1 variant at 2p25.1 where the T allele (GRCh38 reference) is ass...	Endometriosis & Uterine Health	Endometriosis	Strong
rs1250248	FN1	Intronic variant in the fibronectin 1 gene associated with increased suscepti...	Endometriosis & Uterine Health	Endometriosis	Strong
rs12700667	7p15.2 (near HOXA10/HOXA11)	Intergenic GWAS locus upstream of homeobox genes HOXA10 and HOXA11 that may i...	Endometriosis & Uterine Health	Endometriosis	Established
rs1238574	SULT1E1 SULT1E1 intronic variant	Intronic variant in SULT1E1 (estrogen sulfotransferase) associated with alter...	Reproductive Hormones	Endometriosis	Emerging
rs13394619	GREB1	Intronic variant in GREB1, an estrogen-responsive gene; the G allele is assoc...	Endometriosis & Uterine Health	Endometriosis	Established
rs142885915	NPSR1 NPSR1 Endometriosis Risk Variant	An intronic insertion/deletion variant in the neuropeptide S receptor 1 gene ...	Endometriosis & Uterine Health	Endometriosis	Moderate
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	Endometriosis	Moderate
rs1537377	CDKN2BAS CDKN2B-AS1 rs1537377	Regulatory variant in the ANRIL long non-coding RNA at the 9p21.3 locus; the ...	Endometriosis & Uterine Health	Endometriosis	Strong
rs1903068	KDR KDR/VEGFR2 Endometriosis Angiogenesis Variant	Intergenic variant ~17 kb upstream of KDR (encoding VEGFR2, the primary VEGF ...	Endometriosis & Uterine Health	Endometriosis	Strong
rs1971256	CCDC170 CCDC170/ESR1 Endometriosis Estrogen Signaling Variant	Intronic variant in CCDC170 at the 6q25.1 estrogen-signaling locus, co-regula...	Endometriosis & Uterine Health	Endometriosis	Strong
rs2046210	ESR1 ESR1 rs2046210	Promoter-region variant upstream of estrogen receptor alpha (ESR1) at 6q25.1;...	Endometriosis & Uterine Health	Endometriosis	Strong
rs2206949	ESR1 ESR1 Intronic Endometriosis Variant	Intronic variant in the estrogen receptor alpha gene at the 6q25.1 locus inde...	Endometriosis & Uterine Health	Endometriosis	Moderate
rs2856836	IL1A	3' UTR variant in IL1A (interleukin-1 alpha) associated with endometriosis su...	Endometriosis & Uterine Health	Endometriosis	Moderate
rs3783550	IL1A	Intronic variant within IL1A (Interleukin-1 alpha) associated with endometrio...	Endometriosis & Uterine Health	Endometriosis	Moderate
rs3820282	WNT4	Intronic variant in WNT4 on chromosome 1p36.12 that introduces a high-affinit...	Endometriosis & Uterine Health	Endometriosis	Strong
rs4762326	VEZT VEZT Endometriosis Cell Adhesion Variant	Intronic variant in VEZT (vezatin, adherens junction transmembrane protein) o...	Endometriosis & Uterine Health	Endometriosis	Strong
rs4848306	IL1B	IL1B promoter -3737 G/A variant that modulates interleukin-1β expression; the...	Endometriosis & Uterine Health	Endometriosis	Emerging
rs519664	TTC39B TTC39B rs519664	Intronic variant in TTC39B (9p22) that increases endometriosis susceptibility...	Endometriosis & Uterine Health	Endometriosis	Strong
rs6542095	IL1A IL1A rs6542095	Regulatory variant near the IL1A (Interleukin-1 alpha) gene associated with m...	Endometriosis & Uterine Health	Endometriosis	Moderate
rs6557160	CCDC170/ESR1	Intergenic 6q25.1 variant between CCDC170 and ESR1; the C allele is an eQTL f...	Endometriosis & Uterine Health	Endometriosis	Strong
rs6757908	EIF2AK3-AS1	Rare intronic variant in EIF2AK3-AS1, an antisense long non-coding RNA that r...	Endometriosis & Uterine Health	Endometriosis	Emerging
rs71575922	SYNE1 SYNE1 Endometriosis Pain Subphenotype Variant	An intronic variant in SYNE1 (Nesprin-1) at the 6q25.1 locus, first identifie...	Endometriosis & Uterine Health	Endometriosis	Strong
rs9340799	ESR1 XbaI polymorphism	Intronic variant in the estrogen receptor alpha gene (intron 1) associated wi...	Reproductive Hormones	Endometriosis	Moderate
rs73625113	ESR1 ESR1 rs73625113	An intronic regulatory variant in ESR1 at the 6q25.1 locus identified as a hi...	Endometriosis & Uterine Health	Endometriosis	Strong
rs7521902	WNT4	Intronic variant near WNT4 on chromosome 1p36.12 associated in multiple GWAS ...	Endometriosis & Uterine Health	Endometriosis	Strong
rs9383935	CCDC170	3' UTR variant in CCDC170 at the 6q25.1 estrogen-signaling locus; the T allel...	Endometriosis & Uterine Health	Endometriosis	Moderate