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	Hormones & Thyroid	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	Hormones & Thyroid	Strong
rs12095080	DIO1 DIO1 cardiac mortality variant	3' UTR variant in the type 1 deiodinase gene associated with markedly increas...	Coronary Artery Disease & Atherosclerosis	Hormones & Thyroid	Emerging
rs225011	DIO2	Intronic DIO2 variant nominally associated with Graves' disease susceptibilit...	Vitamin D Metabolism	Hormones & Thyroid	Emerging
rs225015	DIO2 DIO2 rs225015	3' UTR regulatory variant in DIO2 that may alter local thyroid hormone availa...	Vitamin D Metabolism	Hormones & Thyroid	Moderate
rs1867277	FOXE1 c.-283G>A	Functional 5' UTR variant in the FOXE1 thyroid transcription factor that incr...	Cancer Risk	Hormones & Thyroid	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	Hormones & Thyroid	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	Hormones & Thyroid	Moderate
rs149007883	NFKBIZ NFKBIZ p.Gly102Ala	Rare protective missense variant in the NF-kB inhibitor zeta gene that reduce...	Hormones & Sleep	Hormones & Thyroid	Moderate
rs944289	FOXE1	Regulatory variant near FOXE1 at 14q13.3 that reduces PTCSC3 tumor suppressor...	Cancer Risk	Hormones & Thyroid	Strong
rs1799941	SHBG	Promoter region variant affecting sex hormone-binding globulin levels, with t...	Hormones & Sleep	Hormones & Thyroid	Strong
rs1991517	TSHR Asp727Glu	Affects TSH receptor sensitivity and thyroid hormone regulation; influences T...	Hormones & Sleep	Hormones & Thyroid	Strong
rs2016105	ELK3 ELK3 TSH regulatory variant	Intronic regulatory variant in ELK3 influencing circulating TSH levels and hy...	Hormones & Sleep	Hormones & Thyroid	Strong
rs1571583	GLIS3 GLIS3 Beta Cell Development Variant	Intronic GLIS3 variant in which the rare A allele modestly elevates TSH, refl...	Blood Sugar & Diabetes	Hormones & Thyroid	Strong
rs2234693	ESR1 PvuII	Estrogen receptor alpha intron variant affecting receptor expression and estr...	Hormones & Sleep	Hormones & Thyroid	Moderate
rs225014	DIO2 Thr92Ala	Affects conversion of inactive T4 to active T3 thyroid hormone in brain, pitu...	Hormones & Sleep	Hormones & Thyroid	Strong
rs523349	SRD5A2 V89L	Missense variant reducing 5-alpha-reductase type 2 enzyme activity, affecting...	Hormones & Sleep	Hormones & Thyroid	Moderate
rs6885099	PDE8B PDE8B TSH variant	Intronic TSH quantitative trait locus in phosphodiesterase 8B — the G allele ...	Hormones & Sleep	Hormones & Thyroid	Strong
rs743572	CYP17A1 -34 T>C	Promoter variant affecting 17α-hydroxylase expression and steroid hormone syn...	Hormones & Sleep	Hormones & Thyroid	Strong
rs76428106	FLT3 FLT3 Intronic Splice Variant	Low-frequency intronic variant in FLT3 that creates a cryptic splice site, tr...	Hormones & Sleep	Hormones & Thyroid	Strong
rs7850258	PTCSC2	Intronic variant in the PTCSC2 lncRNA that alters a FOXE1 enhancer element, m...	Hormones & Sleep	Hormones & Thyroid	Strong
rs78534766	ADCY7 ADCY7 D439E	Low-frequency missense variant in adenylyl cyclase 7 that reduces cAMP synthe...	Hormones & Sleep	Hormones & Thyroid	Strong
rs965513	FOXE1	Strongest GWAS thyroid locus — regulatory variant near FOXE1 affecting thyroi...	Hormones & Sleep	Hormones & Thyroid	Strong