Tag

Women's Health

72 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	Women's Health	Moderate
rs10167914	IL1A IL1A Endometriosis Susceptibility Variant	A regulatory tag SNP in the IL1A/IL1B locus on chromosome 2q13; the G allele ...	Endometriosis & Uterine Health	Women's Health	Strong
rs10195252	GRB14/COBLL1	Intergenic variant between GRB14 and COBLL1 that acts as an eQTL for GRB14 in...	Blood Sugar & Diabetes	Women's Health	Strong
rs1062033	CYP19A1	Intronic regulatory polymorphism in the aromatase gene affecting CYP19A1 tran...	Hormones & Sleep	Women's Health	Moderate
rs10804920	TP63 TP63 oocyte apoptosis checkpoint variant	Intronic variant in TP63 (p63), the master DNA-damage checkpoint gene in prim...	Gamete Quality & DNA Repair	Women's Health	Strong
rs1054564	GDF15 GDF15 3'UTR rs1054564	3'UTR variant that controls GDF15 expression via microRNA regulation — C alle...	Endometriosis & Uterine Health	Women's Health	Moderate
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	Women's Health	Emerging
rs116098458	KIF2B	Rare intronic variant in a lncRNA antisense to KIF2B (chromosome 17q22), iden...	Gamete Quality & DNA Repair	Women's Health	Moderate
rs10859871	VEZT	Intronic variant near the VEZT (vezatin) gene at 12q22 associated with increa...	Endometriosis & Uterine Health	Women's Health	Strong
rs121909567	SERPINC1 Budapest 3 (Leu131Phe)	Pathogenic missense in antithrombin III; the A allele causes type II heparin-...	Von Willebrand & Anticoagulant Proteins	Women's Health	Established
rs10848087	PIWIL1 PIWIL1 G>A (c.1128G>A)	Synonymous variant in PIWIL1 associated with increased epithelial ovarian can...	Fertility & Ovarian Function	Women's Health	Emerging
rs11674184	GREB1 GREB1 Estrogen-Responsive Endometriosis Variant	Intronic GREB1 variant at 2p25.1 where the T allele (GRCh38 reference) is ass...	Endometriosis & Uterine Health	Women's Health	Strong
rs121909569	SERPINC1 Ser148Pro	Likely pathogenic missense variant in antithrombin III; the G allele converts...	Von Willebrand & Anticoagulant Proteins	Women's Health	Strong
rs1250248	FN1	Intronic variant in the fibronectin 1 gene associated with increased suscepti...	Endometriosis & Uterine Health	Women's Health	Strong
rs1799963	F2 G20210A	Second most common inherited thrombophilia; the A allele raises prothrombin l...	Coagulation & Clotting Factors	Women's Health	Established
rs121918475	PROS1 Q279X	Pathogenic nonsense variant in protein S that eliminates the anticoagulant co...	Von Willebrand & Anticoagulant Proteins	Women's Health	Established
rs12700667	7p15.2 (near HOXA10/HOXA11)	Intergenic GWAS locus upstream of homeobox genes HOXA10 and HOXA11 that may i...	Endometriosis & Uterine Health	Women's Health	Established
rs104894009	GCK Arg191Trp (MODY2)	Pathogenic glucokinase missense variant that raises the beta-cell glucose sen...	Blood Sugar & Diabetes	Women's Health	Established
rs1159327	ESR1 ESR1 intron variant	Intronic variant in estrogen receptor alpha associated with bone mineral dens...	Reproductive Hormones	Women's Health	Moderate
rs121908866	TSHR W546X	Nonsense mutation in the TSHR gene (Trp546Ter) that eliminates functional TSH...	Reproductive Hormones	Women's Health	Strong
rs146906133	FRMD5 FRMD5 UTI susceptibility variant	Intronic variant in FRMD5 — a cell-adhesion scaffolding gene — where the rare...	Innate Immunity & Infection Defense	Women's Health	Emerging
rs1238574	SULT1E1 SULT1E1 intronic variant	Intronic variant in SULT1E1 (estrogen sulfotransferase) associated with alter...	Reproductive Hormones	Women's Health	Emerging
rs1800386	VWF Tyr1584Cys	Low-penetrance variant in von Willebrand factor that causes enhanced protein ...	Von Willebrand & Anticoagulant Proteins	Women's Health	Strong
rs13394619	GREB1	Intronic variant in GREB1, an estrogen-responsive gene; the G allele is assoc...	Endometriosis & Uterine Health	Women's Health	Established
rs142885915	NPSR1 NPSR1 Endometriosis Risk Variant	An intronic insertion/deletion variant in the neuropeptide S receptor 1 gene ...	Endometriosis & Uterine Health	Women's Health	Moderate
rs2153157	SYCP2L SYCP2L splice-efficiency variant	Intronic SYCP2L variant in a U12-type minor intron; the A allele splices more...	Fertility & Ovarian Function	Women's Health	Strong
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	Women's 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	Women's Health	Strong
rs1903068	KDR KDR/VEGFR2 Endometriosis Angiogenesis Variant	Intergenic variant ~17 kb upstream of KDR (encoding VEGFR2, the primary VEGF ...	Endometriosis & Uterine Health	Women's Health	Strong
rs267607326	VWF Y1146C	Pathogenic missense variant in the VWF D3 domain causing von Willebrand disea...	Von Willebrand & Anticoagulant Proteins	Women's Health	Established
rs1971256	CCDC170 CCDC170/ESR1 Endometriosis Estrogen Signaling Variant	Intronic variant in CCDC170 at the 6q25.1 estrogen-signaling locus, co-regula...	Endometriosis & Uterine Health	Women's Health	Strong
rs228921	TMPRSS6 TMPRSS6 iron regulation variant	Upstream regulatory variant near TMPRSS6 that independently lowers hemoglobin...	Iron & Mineral Transport	Women's Health	Strong
rs267607352	VWF W1745C	Missense variant in the VWF A3 collagen-binding domain causing isolated colla...	Von Willebrand & Anticoagulant Proteins	Women's Health	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	Women's Health	Strong
rs2046210	ESR1 ESR1 rs2046210	Promoter-region variant upstream of estrogen receptor alpha (ESR1) at 6q25.1;...	Endometriosis & Uterine Health	Women's 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	Women's Health	Moderate
rs2206949	ESR1 ESR1 Intronic Endometriosis Variant	Intronic variant in the estrogen receptor alpha gene at the 6q25.1 locus inde...	Endometriosis & Uterine Health	Women's Health	Moderate
rs2883929	NR3C2 NR3C2 I3 intron variant	Intronic variant in the mineralocorticoid receptor gene associated with alter...	Reproductive Hormones	Women's Health	Moderate
rs2976388	PSCA PSCA bladder urothelial variant	Intronic PSCA variant that tags a regulatory region active in bladder urothel...	Innate Immunity & Infection Defense	Women's Health	Strong
rs2456181	ZNF346	Intronic variant near ZNF346 and FGFR4 on chromosome 5q35.2, associated with ...	Endometriosis & Uterine Health	Women's Health	Strong
rs28416520	PIWIL1 PIWIL1 piRNA Pathway Variant	A regulatory variant upstream of PIWIL1 on chromosome 12, in a CpG region of ...	Fertility & Ovarian Function	Women's Health	Moderate
rs4762	AGT T174M	Missense variant in angiotensinogen that increases AGT protein levels and rai...	Blood Pressure & Hypertension	Women's Health	Moderate
rs853854	MAPRE1 MAPRE1/EB1 Spindle Stability	An intronic PCOS susceptibility variant in MAPRE1 (chromosome 20q11.21) ident...	Gamete Quality & DNA Repair	Women's Health	Moderate
rs4704397	PDE8B PDE8B TSH-associated variant	Intronic variant in PDE8B (phosphodiesterase 8B) strongly associated with ser...	Reproductive Hormones	Women's Health	Strong
rs3750243	EIF4EBP1 EIF4EBP1 mTOR Pathway Variant	Regulatory variant 2 kb upstream of EIF4EBP1 (encoding 4E-BP1, a direct mTOR ...	Fertility & Ovarian Function	Women's Health	Strong
rs3783550	IL1A	Intronic variant within IL1A (Interleukin-1 alpha) associated with endometrio...	Endometriosis & Uterine Health	Women's Health	Moderate
rs387906674	PROS1 R355C	Rare pathogenic missense variant in protein S causing hereditary type III pro...	Von Willebrand & Anticoagulant Proteins	Women's Health	Strong
rs3820282	WNT4	Intronic variant in WNT4 on chromosome 1p36.12 that introduces a high-affinit...	Endometriosis & Uterine Health	Women's Health	Strong
rs4784165	TOX3 TOX3 rs4784165	Intronic PCOS susceptibility variant near TOX3; the G allele is associated wi...	Fertility & Ovarian Function	Women's Health	Moderate
rs4762326	VEZT VEZT Endometriosis Cell Adhesion Variant	Intronic variant in VEZT (vezatin, adherens junction transmembrane protein) o...	Endometriosis & Uterine Health	Women's Health	Strong
rs4848306	IL1B	IL1B promoter -3737 G/A variant that modulates interleukin-1β expression; the...	Endometriosis & Uterine Health	Women's Health	Emerging
rs61750581	VWF S1613P	A2 domain missense variant in von Willebrand factor associated with type 2A v...	Von Willebrand & Anticoagulant Proteins	Women's Health	Moderate
rs2881766	ESR1 ESR1 intron variant	Intronic variant in estrogen receptor alpha that alters ESR1 expression and h...	Vascular Inflammation & Remodeling	Women's Health	Moderate
rs28933978	OTC R141Q (Arg141Gln)	The most common OTC point mutation, abolishing ornithine transcarbamylase enz...	Metabolic Enzymes & Rare Disorders	Women's Health	Established
rs519664	TTC39B TTC39B rs519664	Intronic variant in TTC39B (9p22) that increases endometriosis susceptibility...	Endometriosis & Uterine Health	Women's Health	Strong
rs547025	SIRT3	Intronic variant in SIRT3 (the principal mitochondrial deacetylase) associate...	Endometriosis & Uterine Health	Women's Health	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	Women's Health	Strong
rs1801282	PPARG Pro12Ala	Insulin sensitivity - affects how well your cells respond to insulin	Fat Storage & Energy	Women's Health	Established
rs6542095	IL1A IL1A rs6542095	Regulatory variant near the IL1A (Interleukin-1 alpha) gene associated with m...	Endometriosis & Uterine Health	Women's Health	Moderate
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	Women's Health	Strong
rs6557160	CCDC170/ESR1	Intergenic 6q25.1 variant between CCDC170 and ESR1; the C allele is an eQTL f...	Endometriosis & Uterine Health	Women's Health	Strong
rs71575922	SYNE1 SYNE1 Endometriosis Pain Subphenotype Variant	An intronic variant in SYNE1 (Nesprin-1) at the 6q25.1 locus, first identifie...	Endometriosis & Uterine Health	Women's Health	Strong
rs72709458	TERT	Intronic TERT variant that increases uterine fibroid (leiomyoma) risk through...	Endometriosis & Uterine Health	Women's Health	Strong
rs9340799	ESR1 XbaI polymorphism	Intronic variant in the estrogen receptor alpha gene (intron 1) associated wi...	Reproductive Hormones	Women's Health	Moderate
rs73625113	ESR1 ESR1 rs73625113	An intronic regulatory variant in ESR1 at the 6q25.1 locus identified as a hi...	Endometriosis & Uterine Health	Women's Health	Strong
rs61754010	VWF N528S	Pathogenic missense variant in the VWF propeptide D2 domain that introduces a...	Von Willebrand & Anticoagulant Proteins	Women's Health	Strong
rs9383935	CCDC170	3' UTR variant in CCDC170 at the 6q25.1 estrogen-signaling locus; the T allel...	Endometriosis & Uterine Health	Women's Health	Moderate
rs2268574	GCK c.679+38T>G	Intronic GCK variant 38 bp downstream of exon 7; the A allele (GRCh38 referen...	Blood Sugar & Diabetes	Women's Health	Emerging
rs2466293	SLC30A8 SLC30A8 Islet Zinc Regulation Variant	3'UTR variant in the zinc transporter ZnT8 gene that disrupts miRNA binding s...	Blood Sugar & Diabetes	Women's Health	Moderate
rs7664413	VEGFC	Intronic variant in the primary lymphangiogenesis growth factor gene associat...	Innate Immunity & Infection Defense	Women's Health	Emerging
rs897453	PEMT	PEMT missense variant (Val95Ile) reducing endogenous phosphatidylcholine synt...	Vitamins & Nutrient Absorption	Women's Health	Moderate
rs9491696	RSPO3	Intronic enhancer variant in RSPO3 that increases gene expression in adipocyt...	Fat Storage & Energy	Women's Health	Strong