Tag

Hormones

78 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	Hormones	Moderate
rs1046089	PRRC2A Arg1740His	Missense variant in PRRC2A (HLA-B associated transcript) linked to age at nat...	Fertility & Ovarian Function	Hormones	Strong
rs104894085	STAR Q258X (c.772C>T)	Nonsense mutation in STAR that abolishes steroidogenic acute regulatory prote...	Reproductive Hormones	Hormones	Established
rs104894137	CYP17A1 Pro342Thr	Missense variant in CYP17A1 reducing both 17α-hydroxylase and 17,20-lyase act...	Reproductive Hormones	Hormones	Strong
rs10766383	NUCB2	Intronic NUCB2 variant associated with type 2 diabetes risk in females and or...	Hormones & Sleep	Hormones	Moderate
rs104894138	CYP17A1 Arg96Trp (R96W)	Pathogenic missense variant abolishing 17α-hydroxylase/17,20-lyase activity, ...	Reproductive Hormones	Hormones	Established
rs11674184	GREB1 GREB1 Estrogen-Responsive Endometriosis Variant	Intronic GREB1 variant at 2p25.1 where the T allele (GRCh38 reference) is ass...	Endometriosis & Uterine Health	Hormones	Strong
rs11031006	FSHB	Distal enhancer variant ~26 kb upstream of FSHB associated with FSH levels, d...	Fertility & Ovarian Function	Hormones	Strong
rs104894142	CYP17A1 R362C (Arg362Cys)	Pathogenic CYP17A1 missense variant causing combined 17α-hydroxylase/17,20-ly...	Reproductive Hormones	Hormones	Established
rs11206244	DIO1 C785T	Common variant in the 3' UTR of the DIO1 gene affecting thyroid hormone metab...	Hormones & Sleep	Hormones	Strong
rs104894143	CYP17A1 W406R (Trp406Arg)	Pathogenic missense variant in CYP17A1 causing complete loss of 17α-hydroxyla...	Reproductive Hormones	Hormones	Established
rs1137101	LEPR Q223R (Gln223Arg)	Common leptin receptor variant in the leptin-binding domain affecting satiety...	Hormones & Sleep	Hormones	Moderate
rs12470652	LHCGR Asn291Ser (N291S)	Missense variant in the LH/hCG receptor producing a gain-of-function increase...	Fertility & Ovarian Function	Hormones	Moderate
rs12700667	7p15.2 (near HOXA10/HOXA11)	Intergenic GWAS locus upstream of homeobox genes HOXA10 and HOXA11 that may i...	Endometriosis & Uterine Health	Hormones	Established
rs1144566	RGS16 RGS16 H137R	Missense variant in RGS16 that substitutes histidine for arginine at position...	Hormones & Sleep	Hormones	Moderate
rs12478601	THADA THADA PCOS/Insulin Resistance	Intronic variant in THADA (thyroid adenoma associated) on chromosome 2p21; th...	Fertility & Ovarian Function	Hormones	Strong
rs121908866	TSHR W546X	Nonsense mutation in the TSHR gene (Trp546Ter) that eliminates functional TSH...	Reproductive Hormones	Hormones	Strong
rs13405728	LHCGR	Intronic variant in the LH/choriogonadotropin receptor gene associated with P...	Fertility & Ovarian Function	Hormones	Strong
rs11545787	RASD1 RASD1 photic entrainment variant	3' UTR variant in RASD1 (Dexras1), a GTPase that gates light signals to the c...	Hormones & Sleep	Hormones	Strong
rs13164856	IRF1	PCOS-susceptibility tag SNP at the IRF1/RAD50 5q31 locus, associated with ele...	Endometriosis & Uterine Health	Hormones	Strong
rs12970134	MC4R MC4R region variant	Near-gene variant ~188kb downstream of MC4R associated with increased waist c...	Appetite & Obesity	Hormones	Strong
rs13394619	GREB1	Intronic variant in GREB1, an estrogen-responsive gene; the G allele is assoc...	Endometriosis & Uterine Health	Hormones	Established
rs137852689	STAR R217T (Arg217Thr)	Pathogenic STAR variant that abolishes steroidogenic acute regulatory protein...	Reproductive Hormones	Hormones	Established
rs1784692	ZBTB16 ZBTB16/PLZF Ovarian Volume	An intronic variant in the ZBTB16 (PLZF) locus on chromosome 11q23.2; the T a...	Fertility & Ovarian Function	Hormones	Moderate
rs12736689	RGS16	Intronic/regulatory variant near RGS16 that is the strongest single-locus mor...	Hormones & Sleep	Hormones	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	Hormones	Moderate
rs2178575	ERBB4 ERBB4/HER4 PCOS Folliculogenesis	An intronic variant in ERBB4 on chromosome 2q34; the A allele tags reduced ER...	Fertility & Ovarian Function	Hormones	Strong
rs2180439	WNT10A	Lead SNP at the 20p11 locus, the strongest autosomal genetic risk factor for ...	Skin & Eyes	Hormones	Strong
rs1330	NUCB2	Intronic NUCB2 variant associated with obesity risk in males, type 2 diabetes...	Hormones & Sleep	Hormones	Moderate
rs2268361	FSHR FSHR Intronic Variant (c.669-5590)	Intronic variant in the FSHR gene associated with PCOS susceptibility and FSH...	Fertility & Ovarian Function	Hormones	Moderate
rs2268363	FSHR FSHR ART Response Variant	Intronic variant in the FSH receptor gene; identified in a genome-wide associ...	Fertility & Ovarian Function	Hormones	Emerging
rs1971256	CCDC170 CCDC170/ESR1 Endometriosis Estrogen Signaling Variant	Intronic variant in CCDC170 at the 6q25.1 estrogen-signaling locus, co-regula...	Endometriosis & Uterine Health	Hormones	Strong
rs2271194	ERBB3 ERBB3/RAB5B PCOS Metabolic	A splice-region variant at the ERBB3/RAB5B locus on chromosome 12q13.2, a rep...	Fertility & Ovarian Function	Hormones	Strong
rs258750	NR3C1 NR3C1 Intronic Variant (c.2181+244A>G)	Intronic NR3C1 variant tagging glucocorticoid receptor gene haplotype blocks ...	Reproductive Hormones	Hormones	Moderate
rs2293275	LHCGR Asn312Ser (N312S)	Affects LH/hCG receptor sensitivity near a glycosylation site, influencing ov...	Fertility & Ovarian Function	Hormones	Strong
rs2303369	FNDC4	Intronic variant in FNDC4 (fibronectin type III domain containing 4) on chrom...	Fertility & Ovarian Function	Hormones	Strong
rs2883929	NR3C2 NR3C2 I3 intron variant	Intronic variant in the mineralocorticoid receptor gene associated with alter...	Reproductive Hormones	Hormones	Moderate
rs2456181	ZNF346	Intronic variant near ZNF346 and FGFR4 on chromosome 5q35.2, associated with ...	Endometriosis & Uterine Health	Hormones	Strong
rs2479106	DENND1A	Intronic variant in the androgen-regulating DENND1A gene associated with poly...	Fertility & Ovarian Function	Hormones	Strong
rs17679445	PNPO Arg116Gln	Missense variant in pyridoxamine 5'-phosphate oxidase that reduces the enzyme...	Hormones & Sleep	Hormones	Moderate
rs314276	LIN28B	Intronic variant in LIN28B associated with puberty timing — the C allele may ...	Fertility & Ovarian Function	Hormones	Established
rs4704397	PDE8B PDE8B TSH-associated variant	Intronic variant in PDE8B (phosphodiesterase 8B) strongly associated with ser...	Reproductive Hormones	Hormones	Strong
rs2922126	GHSR GHSR A/G (rs2922126)	Upstream regulatory variant near the ghrelin receptor gene; the A allele is a...	Appetite & Obesity	Hormones	Moderate
rs4784165	TOX3 TOX3 rs4784165	Intronic PCOS susceptibility variant near TOX3; the G allele is associated wi...	Fertility & Ovarian Function	Hormones	Moderate
rs5934505	FAM9B	Intergenic GWAS variant on chromosome Xp22, near the testis-specific genes FA...	Reproductive Hormones	Hormones	Strong
rs4944653	PRSS23 PRSS23 Ovarian Serine Protease	An intergenic tag SNP ~50 kb downstream of PRSS23 (serine protease 23) on chr...	Fertility & Ovarian Function	Hormones	Moderate
rs6165	FSHR Ala307Thr (T307A)	Missense variant in the extracellular domain of the FSH receptor that removes...	Fertility & Ovarian Function	Hormones	Strong
rs6259	SHBG Asp356Asn	Missense variant in SHBG exon 8 (p.Asp356Asn, historically Asp327Asn in matur...	Reproductive Hormones	Hormones	Moderate
rs7759938	LIN28B	Regulatory variant near LIN28B associated with puberty timing — the T allele ...	Fertility & Ovarian Function	Hormones	Established
rs1884614	HNF4A HNF4A P2 Promoter rs1884614	Intronic variant tagging the HNF4A P2 promoter risk haplotype; the T allele i...	Hormones & Sleep	Hormones	Moderate
rs7852296	DENND1A DENND1A PCOS Susceptibility Variant	An intronic variant in the DENND1A locus on chromosome 9q33.3, a robustly rep...	Fertility & Ovarian Function	Hormones	Moderate
rs490683	GHSR GHSR Promoter NF-1 Site Variant	Promoter variant in the ghrelin receptor gene that disrupts NF-1 transcriptio...	Appetite & Obesity	Hormones	Moderate
rs727428	SHBG SHBG +1091 C>T	Regulatory variant 1 kb downstream of the SHBG gene that reduces sex hormone-...	Reproductive Hormones	Hormones	Strong
rs804279	GATA4 GATA4/NEIL2 PCOS Susceptibility	Intergenic variant at the GATA4/NEIL2 locus on chromosome 8p23.1 associated w...	Fertility & Ovarian Function	Hormones	Moderate
rs2016105	ELK3 ELK3 TSH regulatory variant	Intronic regulatory variant in ELK3 influencing circulating TSH levels and hy...	Hormones & Sleep	Hormones	Strong
rs509035	GHSR GHSR Metabolic Syndrome Variant	Intronic variant in the ghrelin receptor gene; the A allele is associated wit...	Appetite & Obesity	Hormones	Strong
rs4395923	CYP7B1 CYP7B1 Neurosteroid Hydroxylase	Intronic variant in the brain neurosteroid hydroxylase gene affecting DHEA an...	Mood & Behavior	Hormones	Emerging
rs1799817	INSR His1085His	Synonymous variant in the tyrosine kinase domain of the insulin receptor; the...	Blood Sugar & Diabetes	Hormones	Moderate
rs2144908	HNF4A HNF4A P2 Block rs2144908	Intronic HNF4A P2 promoter haplotype tag variant; carriers have modestly impa...	Hormones & Sleep	Hormones	Moderate
rs858518	SHBG SHBG intronic regulatory variant	Intronic variant within the SHBG gene that participates in a haplotype (with ...	Reproductive Hormones	Hormones	Moderate
rs7521902	WNT4	Intronic variant near WNT4 on chromosome 1p36.12 associated in multiple GWAS ...	Endometriosis & Uterine Health	Hormones	Strong
rs7907606	STN1	Intergenic variant near STN1 (telomere maintenance) and SLK (cytoskeletal kin...	Endometriosis & Uterine Health	Hormones	Moderate
rs2291725	GIP Ser103Gly	Missense variant in the GIP incretin hormone that changes its bioactivity and...	Hormones & Sleep	Hormones	Moderate
rs2059807	INSR INSR intronic variant	Intronic INSR variant associated with PCOS susceptibility and metabolic syndr...	Blood Sugar & Diabetes	Hormones	Moderate
rs9819506	GHSR GHSR Promoter Variant (Ghrelin Receptor Signaling)	Promoter-region tag SNP in the ghrelin receptor gene associated with body wei...	Appetite & Obesity	Hormones	Moderate
rs34903499	VIP	Synonymous coding variant in the VIP gene (Asn133Asn); the T allele may alter...	Hormones & Sleep	Hormones	Emerging
rs35833281	HCRTR2	Intronic variant in the orexin/hypocretin receptor 2 gene that tags the HCRTR...	Hormones & Sleep	Hormones	Strong
rs516134	RGS16 RGS16 chronotype variant	Regulatory variant ~20 kb downstream of RGS16 that influences circadian chron...	Hormones & Sleep	Hormones	Strong
rs5443	GNB3 C825T	Synonymous exon-10 variant that triggers alternative splicing of the G-protei...	Hormones & Sleep	Hormones	Strong
rs6166	FSHR Asn680Ser (N680S)	Affects FSH receptor sensitivity, determining ovarian response to FSH stimula...	Hormones & Sleep	Hormones	Strong
rs6885099	PDE8B PDE8B TSH variant	Intronic TSH quantitative trait locus in phosphodiesterase 8B — the G allele ...	Hormones & Sleep	Hormones	Strong
rs700518	CYP19A1 Val80	Synonymous variant in aromatase gene affecting estrogen production, bone dens...	Hormones & Sleep	Hormones	Strong
rs757081	NUCB2 Gln338Glu (Q338E)	Missense variant in nucleobindin-2, the precursor protein cleaved to produce ...	Hormones & Sleep	Hormones	Moderate
rs76428106	FLT3 FLT3 Intronic Splice Variant	Low-frequency intronic variant in FLT3 that creates a cryptic splice site, tr...	Hormones & Sleep	Hormones	Strong
rs7850258	PTCSC2	Intronic variant in the PTCSC2 lncRNA that alters a FOXE1 enhancer element, m...	Hormones & Sleep	Hormones	Strong
rs9479402	VIP VIP chronotype variant	Intergenic variant ~54 kb downstream of the VIP gene; the C allele reduces VI...	Hormones & Sleep	Hormones	Strong
rs9565309	FBXL3 FBXL3 circadian variant	Regulatory variant near FBXL3 that modulates circadian period length; the C a...	Hormones & Sleep	Hormones	Strong
rs965513	FOXE1	Strongest GWAS thyroid locus — regulatory variant near FOXE1 affecting thyroi...	Hormones & Sleep	Hormones	Strong