Tag
Hormones
52 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 | Moderate | |
| rs1046089 | PRRC2A Arg1740His | Missense variant in PRRC2A (HLA-B associated transcript) linked to age at nat... | Fertility & Ovarian Function | Strong | |
| rs104894085 | STAR Q258X (c.772C>T) | Nonsense mutation in STAR that abolishes steroidogenic acute regulatory prote... | Reproductive Hormones | Established | |
| rs10766383 | NUCB2 | Intronic NUCB2 variant associated with type 2 diabetes risk in females and or... | Hormones & Sleep | Moderate | |
| rs11206244 | DIO1 C785T | Common variant in the 3' UTR of the DIO1 gene affecting thyroid hormone metab... | Hormones & Sleep | Strong | |
| rs104894138 | CYP17A1 Arg96Trp (R96W) | Pathogenic missense variant abolishing 17α-hydroxylase/17,20-lyase activity, ... | Reproductive Hormones | Established | |
| rs11031006 | FSHB | Distal enhancer variant ~26 kb upstream of FSHB associated with FSH levels, d... | Fertility & Ovarian Function | Strong | |
| rs1137101 | LEPR Q223R (Gln223Arg) | Common leptin receptor variant in the leptin-binding domain affecting satiety... | 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 | |
| rs1144566 | RGS16 RGS16 H137R | Missense variant in RGS16 that substitutes histidine for arginine at position... | Hormones & Sleep | Moderate | |
| rs12470652 | LHCGR Asn291Ser (N291S) | Missense variant in the LH/hCG receptor producing a gain-of-function increase... | Fertility & Ovarian Function | Moderate | |
| rs104894142 | CYP17A1 R362C (Arg362Cys) | Pathogenic CYP17A1 missense variant causing combined 17α-hydroxylase/17,20-ly... | Reproductive Hormones | Established | |
| rs12478601 | THADA THADA PCOS/Insulin Resistance | Intronic variant in THADA (thyroid adenoma associated) on chromosome 2p21; th... | Fertility & Ovarian Function | Strong | |
| rs104894143 | CYP17A1 W406R (Trp406Arg) | Pathogenic missense variant in CYP17A1 causing complete loss of 17α-hydroxyla... | Reproductive Hormones | Established | |
| rs11545787 | RASD1 RASD1 photic entrainment variant | 3' UTR variant in RASD1 (Dexras1), a GTPase that gates light signals to the c... | Hormones & Sleep | Strong | |
| rs12970134 | MC4R MC4R region variant | Near-gene variant ~188kb downstream of MC4R associated with increased waist c... | Appetite & Obesity | Strong | |
| rs13164856 | IRF1 | PCOS-susceptibility tag SNP at the IRF1/RAD50 5q31 locus, associated with ele... | Endometriosis & Uterine Health | Strong | |
| rs13405728 | LHCGR | Intronic variant in the LH/choriogonadotropin receptor gene associated with P... | Fertility & Ovarian Function | Strong | |
| rs121908866 | TSHR W546X | Nonsense mutation in the TSHR gene (Trp546Ter) that eliminates functional TSH... | Reproductive Hormones | Strong | |
| rs13394619 | GREB1 | Intronic variant in GREB1, an estrogen-responsive gene; the G allele is assoc... | Endometriosis & Uterine Health | 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 | Moderate | |
| rs12736689 | RGS16 | Intronic/regulatory variant near RGS16 that is the strongest single-locus mor... | Hormones & Sleep | Strong | |
| rs1971256 | CCDC170 CCDC170/ESR1 Endometriosis Estrogen Signaling Variant | Intronic variant in CCDC170 at the 6q25.1 estrogen-signaling locus; the C all... | Endometriosis & Uterine Health | Strong | |
| rs2178575 | ERBB4 ERBB4/HER4 PCOS Folliculogenesis | An intronic variant in ERBB4 on chromosome 2q34, increasing PCOS susceptibili... | Fertility & Ovarian Function | Strong | |
| rs2268361 | FSHR FSHR Intronic Variant (c.669-5590) | Intronic variant in the FSHR gene associated with PCOS susceptibility and FSH... | Fertility & Ovarian Function | Moderate | |
| rs2268363 | FSHR FSHR ART Response Variant | Intronic variant in the FSH receptor gene; identified in a genome-wide associ... | Fertility & Ovarian Function | Emerging | |
| rs2293275 | LHCGR Asn312Ser (N312S) | Affects LH/hCG receptor sensitivity near a glycosylation site, influencing ov... | Fertility & Ovarian Function | Strong | |
| rs4704397 | PDE8B PDE8B TSH-associated variant | Intronic variant in PDE8B (phosphodiesterase 8B) strongly associated with ser... | Reproductive Hormones | Strong | |
| rs2303369 | FNDC4 | Intronic variant in FNDC4 (fibronectin type III domain containing 4) on chrom... | Fertility & Ovarian Function | Strong | |
| rs5934505 | FAM9B | Intergenic GWAS variant on chromosome Xp22, near the testis-specific genes FA... | Reproductive Hormones | Strong | |
| rs2479106 | DENND1A | Intronic variant in the androgen-regulating DENND1A gene associated with poly... | Fertility & Ovarian Function | Strong | |
| rs1884614 | HNF4A HNF4A P2 Promoter rs1884614 | Intronic variant tagging the HNF4A P2 promoter risk haplotype; the T allele i... | Hormones & Sleep | Moderate | |
| rs6259 | SHBG Asp356Asn | Missense variant in SHBG exon 8 (p.Asp356Asn, historically Asp327Asn in matur... | Reproductive Hormones | Moderate | |
| rs2016105 | ELK3 ELK3 TSH regulatory variant | Intronic regulatory variant in ELK3 influencing circulating TSH levels and hy... | Hormones & Sleep | Strong | |
| rs314276 | LIN28B | Intronic variant in LIN28B associated with puberty timing — the C allele may ... | Fertility & Ovarian Function | Established | |
| rs4784165 | TOX3 TOX3 rs4784165 | Intronic PCOS susceptibility variant near TOX3; the G allele is associated wi... | Fertility & Ovarian Function | Moderate | |
| rs4944653 | PRSS23 PRSS23 Ovarian Serine Protease | An intergenic tag SNP ~50 kb downstream of PRSS23 (serine protease 23) on chr... | Fertility & Ovarian Function | Moderate | |
| rs727428 | SHBG SHBG +1091 C>T | Regulatory variant 1 kb downstream of the SHBG gene that reduces sex hormone-... | Reproductive Hormones | Strong | |
| rs1799817 | INSR His1085His | Synonymous variant in the tyrosine kinase domain of the insulin receptor; the... | Blood Sugar & Diabetes | Moderate | |
| rs2144908 | HNF4A HNF4A P2 Block rs2144908 | Intronic HNF4A P2 promoter haplotype tag variant; carriers have modestly impa... | Hormones & Sleep | Moderate | |
| rs6165 | FSHR Ala307Thr (T307A) | Missense variant in the extracellular domain of the FSH receptor that removes... | Fertility & Ovarian Function | Strong | |
| rs7759938 | LIN28B | Regulatory variant near LIN28B associated with puberty timing — the T allele ... | Fertility & Ovarian Function | Established | |
| rs2059807 | INSR INSR intronic variant | Intronic INSR variant associated with PCOS susceptibility and metabolic syndr... | Blood Sugar & Diabetes | Moderate | |
| rs7521902 | WNT4 | Intronic variant near WNT4 on chromosome 1p36.12 associated in multiple GWAS ... | Endometriosis & Uterine Health | Strong | |
| rs7907606 | STN1 | Intergenic variant near STN1 (telomere maintenance) and SLK (cytoskeletal kin... | Endometriosis & Uterine Health | Moderate | |
| rs516134 | RGS16 RGS16 chronotype variant | Regulatory variant ~20 kb downstream of RGS16 that influences circadian chron... | Hormones & Sleep | Strong | |
| rs5443 | GNB3 C825T | Synonymous exon-10 variant that triggers alternative splicing of the G-protei... | Hormones & Sleep | Strong | |
| rs6166 | FSHR Asn680Ser (N680S) | Affects FSH receptor sensitivity, determining ovarian response to FSH stimula... | Hormones & Sleep | Strong | |
| rs6885099 | PDE8B PDE8B TSH variant | Intronic TSH quantitative trait locus in phosphodiesterase 8B — the G allele ... | Hormones & Sleep | Strong | |
| rs76428106 | FLT3 FLT3 Intronic Splice Variant | Low-frequency intronic variant in FLT3 that creates a cryptic splice site, tr... | Hormones & Sleep | Strong | |
| rs7850258 | PTCSC2 | Intronic variant in the PTCSC2 lncRNA that alters a FOXE1 enhancer element, m... | Hormones & Sleep | Strong | |
| rs965513 | FOXE1 | Strongest GWAS thyroid locus — regulatory variant near FOXE1 affecting thyroi... | Hormones & Sleep | Strong |