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 | Strong | |
| rs10859871 | VEZT | Intronic variant near the VEZT (vezatin) gene at 12q22 associated with increa... | Endometriosis & Uterine Health | 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 | Strong | |
| rs1250248 | FN1 | Intronic variant in the fibronectin 1 gene associated with increased suscepti... | Endometriosis & Uterine Health | Strong | |
| rs12700667 | 7p15.2 (near HOXA10/HOXA11) | Intergenic GWAS locus upstream of homeobox genes HOXA10 and HOXA11 that may i... | Endometriosis & Uterine Health | Established | |
| rs1238574 | SULT1E1 SULT1E1 intronic variant | Intronic variant in SULT1E1 (estrogen sulfotransferase) associated with alter... | Reproductive Hormones | Emerging | |
| rs13394619 | GREB1 | Intronic variant in GREB1, an estrogen-responsive gene; the G allele is assoc... | Endometriosis & Uterine Health | Established | |
| rs142885915 | NPSR1 NPSR1 Endometriosis Risk Variant | An intronic insertion/deletion variant in the neuropeptide S receptor 1 gene ... | Endometriosis & Uterine Health | 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 | Moderate | |
| rs1537377 | CDKN2BAS CDKN2B-AS1 rs1537377 | Regulatory variant in the ANRIL long non-coding RNA at the 9p21.3 locus; the ... | Endometriosis & Uterine Health | Strong | |
| rs1903068 | KDR KDR/VEGFR2 Endometriosis Angiogenesis Variant | Intergenic variant ~17 kb upstream of KDR (encoding VEGFR2, the primary VEGF ... | Endometriosis & Uterine Health | 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 | Strong | |
| rs2046210 | ESR1 ESR1 rs2046210 | Promoter-region variant upstream of estrogen receptor alpha (ESR1) at 6q25.1;... | Endometriosis & Uterine Health | Strong | |
| rs2206949 | ESR1 ESR1 Intronic Endometriosis Variant | Intronic variant in the estrogen receptor alpha gene at the 6q25.1 locus inde... | Endometriosis & Uterine Health | Moderate | |
| rs2856836 | IL1A | 3' UTR variant in IL1A (interleukin-1 alpha) associated with endometriosis su... | Endometriosis & Uterine Health | Moderate | |
| rs3783550 | IL1A | Intronic variant within IL1A (Interleukin-1 alpha) associated with endometrio... | Endometriosis & Uterine Health | Moderate | |
| rs3820282 | WNT4 | Intronic variant in WNT4 on chromosome 1p36.12 that introduces a high-affinit... | Endometriosis & Uterine Health | Strong | |
| rs4762326 | VEZT VEZT Endometriosis Cell Adhesion Variant | Intronic variant in VEZT (vezatin, adherens junction transmembrane protein) o... | Endometriosis & Uterine Health | Strong | |
| rs4848306 | IL1B | IL1B promoter -3737 G/A variant that modulates interleukin-1β expression; the... | Endometriosis & Uterine Health | Emerging | |
| rs519664 | TTC39B TTC39B rs519664 | Intronic variant in TTC39B (9p22) that increases endometriosis susceptibility... | Endometriosis & Uterine Health | Strong | |
| rs6542095 | IL1A IL1A rs6542095 | Regulatory variant near the IL1A (Interleukin-1 alpha) gene associated with m... | Endometriosis & Uterine Health | Moderate | |
| rs6557160 | CCDC170/ESR1 | Intergenic 6q25.1 variant between CCDC170 and ESR1; the C allele is an eQTL f... | Endometriosis & Uterine Health | Strong | |
| rs6757908 | EIF2AK3-AS1 | Rare intronic variant in EIF2AK3-AS1, an antisense long non-coding RNA that r... | Endometriosis & Uterine Health | 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 | Strong | |
| 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 | |
| rs7521902 | WNT4 | Intronic variant near WNT4 on chromosome 1p36.12 associated in multiple GWAS ... | 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 |