Tag

Thyroid

30 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	Thyroid	Strong
rs11206244	DIO1 C785T	Common variant in the 3' UTR of the DIO1 gene affecting thyroid hormone metab...	Hormones & Sleep	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	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	Thyroid	Emerging
rs1867277	FOXE1 c.-283G>A	Functional 5' UTR variant in the FOXE1 thyroid transcription factor that incr...	Cancer Risk	Thyroid	Strong
rs121908866	TSHR W546X	Nonsense mutation in the TSHR gene (Trp546Ter) that eliminates functional TSH...	Reproductive Hormones	Thyroid	Strong
rs12730735	PTPN22	Intronic PTPN22 haplotype tag variant that refines autoimmune risk stratifica...	Autoimmune Tolerance & T-Cell Regulation	Thyroid	Moderate
rs1883832	CD40 Kozak -1C>T	Kozak sequence variant at position −1 of the CD40 start codon — the C allele ...	B-Cell Immunity & Antibody-Mediated Disease	Thyroid	Strong
rs225011	DIO2	Intronic DIO2 variant nominally associated with Graves' disease susceptibilit...	Vitamin D Metabolism	Thyroid	Emerging
rs225015	DIO2 DIO2 rs225015	3' UTR regulatory variant in DIO2 that may alter local thyroid hormone availa...	Vitamin D Metabolism	Thyroid	Moderate
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	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	Thyroid	Moderate
rs4704397	PDE8B PDE8B TSH-associated variant	Intronic variant in PDE8B (phosphodiesterase 8B) strongly associated with ser...	Reproductive Hormones	Thyroid	Strong
rs231775	CTLA4 Thr17Ala	Missense variant in the CTLA-4 leader peptide that reduces surface expression...	Autoimmune Tolerance & T-Cell Regulation	Thyroid	Strong
rs3748079	ITPR3 ITPR3 rs3748079	Promoter variant in the ITPR3 calcium channel gene affecting NKX2.5 binding a...	B-Cell Immunity & Antibody-Mediated Disease	Thyroid	Moderate
rs4810485	CD40	Intronic variant in CD40 regulating B-cell surface expression; the G allele d...	B-Cell Immunity & Antibody-Mediated Disease	Thyroid	Strong
rs4840568	BLK	Regulatory variant 2kb upstream of BLK that tags reduced B-lymphoid tyrosine ...	B-Cell Immunity & Antibody-Mediated Disease	Thyroid	Moderate
rs2016105	ELK3 ELK3 TSH regulatory variant	Intronic regulatory variant in ELK3 influencing circulating TSH levels and hy...	Hormones & Sleep	Thyroid	Strong
rs3087243	CTLA4 CT60	Immune checkpoint regulatory variant in the 3'UTR affecting T-cell activation...	Autoimmune Tolerance & T-Cell Regulation	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	Thyroid	Strong
rs3816769	STAT3 STAT3 co-variant	Intronic STAT3 variant where the T allele (reference, ~66%) increases risk fo...	TNF, NF-kB & Inflammatory Cytokines	Thyroid	Moderate
rs41295061	IL2RA	Regulatory variant in the IL2RA locus altering LEF1 transcription factor bind...	Autoimmune Tolerance & T-Cell Regulation	Thyroid	Strong
rs5742909	CTLA4 Promoter -318C/T	Promoter variant that increases CTLA-4 transcription; T allele carriers show ...	Autoimmune Tolerance & T-Cell Regulation	Thyroid	Moderate
rs7528684	FCRL3 -169C>T	Promoter variant in FCRL3 that alters NF-κB binding and elevates FCRL3 expres...	B-Cell Immunity & Antibody-Mediated Disease	Thyroid	Moderate
rs7530511	IL23R Leu310Pro	Missense variant in the IL-23 receptor that substitutes leucine for proline a...	IBD & Mucosal Immunity	Thyroid	Moderate
rs6885099	PDE8B PDE8B TSH variant	Intronic TSH quantitative trait locus in phosphodiesterase 8B — the G allele ...	Hormones & Sleep	Thyroid	Strong
rs76428106	FLT3 FLT3 Intronic Splice Variant	Low-frequency intronic variant in FLT3 that creates a cryptic splice site, tr...	Hormones & Sleep	Thyroid	Strong
rs7850258	PTCSC2	Intronic variant in the PTCSC2 lncRNA that alters a FOXE1 enhancer element, m...	Hormones & Sleep	Thyroid	Strong
rs78534766	ADCY7 ADCY7 D439E	Low-frequency missense variant in adenylyl cyclase 7 that reduces cAMP synthe...	Hormones & Sleep	Thyroid	Strong
rs965513	FOXE1	Strongest GWAS thyroid locus — regulatory variant near FOXE1 affecting thyroi...	Hormones & Sleep	Thyroid	Strong