Tag
Hormones & Thyroid
23 genetic variants with this tag.
| RSID | Gene | Description | Category | ||
|---|---|---|---|---|---|
| rs12101255 | TSHR | Intronic regulatory variant in TSHR intron 1; the T allele disrupts thymic ex... | Autoimmune Tolerance & T-Cell Regulation | Strong | |
| rs12101261 | TSHR TSHR Intron 1 Adjacent Regulatory Variant | Intronic regulatory variant in TSHR intron 1 that is the primary PLZF repress... | Autoimmune Tolerance & T-Cell Regulation | Strong | |
| rs12095080 | DIO1 DIO1 cardiac mortality variant | 3' UTR variant in the type 1 deiodinase gene associated with markedly increas... | Coronary Artery Disease & Atherosclerosis | Emerging | |
| rs225011 | DIO2 | Intronic DIO2 variant nominally associated with Graves' disease susceptibilit... | Vitamin D Metabolism | Emerging | |
| rs225015 | DIO2 DIO2 rs225015 | 3' UTR regulatory variant in DIO2 that may alter local thyroid hormone availa... | Vitamin D Metabolism | Moderate | |
| rs1867277 | FOXE1 c.-283G>A | Functional 5' UTR variant in the FOXE1 thyroid transcription factor that incr... | Cancer Risk | Strong | |
| rs179247 | TSHR TSHR Intron 1 Graves' Disease Risk Variant | Intronic regulatory variant in TSHR intron 1; the A allele reduces thymic exp... | Autoimmune Tolerance & T-Cell Regulation | Strong | |
| rs2268458 | TSHR TSHR Intron 1 Meta-Analysis Variant | Intronic variant in TSHR intron 1; the C allele increases susceptibility to G... | Autoimmune Tolerance & T-Cell Regulation | Moderate | |
| rs149007883 | NFKBIZ NFKBIZ p.Gly102Ala | Rare protective missense variant in the NF-kB inhibitor zeta gene that reduce... | Hormones & Sleep | Moderate | |
| rs944289 | FOXE1 | Regulatory variant near FOXE1 at 14q13.3 that reduces PTCSC3 tumor suppressor... | Cancer Risk | Strong | |
| rs1799941 | SHBG | Promoter region variant affecting sex hormone-binding globulin levels, with t... | Hormones & Sleep | Strong | |
| rs1991517 | TSHR Asp727Glu | Affects TSH receptor sensitivity and thyroid hormone regulation; influences T... | Hormones & Sleep | Strong | |
| rs2016105 | ELK3 ELK3 TSH regulatory variant | Intronic regulatory variant in ELK3 influencing circulating TSH levels and hy... | Hormones & Sleep | Strong | |
| rs1571583 | GLIS3 GLIS3 Beta Cell Development Variant | Intronic GLIS3 variant in which the rare A allele modestly elevates TSH, refl... | Blood Sugar & Diabetes | Strong | |
| rs2234693 | ESR1 PvuII | Estrogen receptor alpha intron variant affecting receptor expression and estr... | Hormones & Sleep | Moderate | |
| rs225014 | DIO2 Thr92Ala | Affects conversion of inactive T4 to active T3 thyroid hormone in brain, pitu... | Hormones & Sleep | Strong | |
| rs523349 | SRD5A2 V89L | Missense variant reducing 5-alpha-reductase type 2 enzyme activity, affecting... | Hormones & Sleep | Moderate | |
| rs6885099 | PDE8B PDE8B TSH variant | Intronic TSH quantitative trait locus in phosphodiesterase 8B — the G allele ... | Hormones & Sleep | Strong | |
| rs743572 | CYP17A1 -34 T>C | Promoter variant affecting 17α-hydroxylase expression and steroid hormone syn... | 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 | |
| rs78534766 | ADCY7 ADCY7 D439E | Low-frequency missense variant in adenylyl cyclase 7 that reduces cAMP synthe... | Hormones & Sleep | Strong | |
| rs965513 | FOXE1 | Strongest GWAS thyroid locus — regulatory variant near FOXE1 affecting thyroi... | Hormones & Sleep | Strong |