Tag

Thyroid

36 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
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
rs11206244	DIO1 C785T	Common variant in the 3' UTR of the DIO1 gene affecting thyroid hormone metab...	Hormones & Sleep	Thyroid	Strong
rs12730735	PTPN22	Intronic PTPN22 haplotype tag variant that refines autoimmune risk stratifica...	Autoimmune Tolerance & T-Cell Regulation	Thyroid	Moderate
rs225011	DIO2	Intronic DIO2 variant nominally associated with Graves' disease susceptibilit...	Vitamin D Metabolism	Thyroid	Emerging
rs121908866	TSHR W546X	Nonsense mutation in the TSHR gene (Trp546Ter) that eliminates functional TSH...	Reproductive Hormones	Thyroid	Strong
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
rs225015	DIO2 DIO2 rs225015	3' UTR regulatory variant in DIO2 that may alter local thyroid hormone availa...	Vitamin D Metabolism	Thyroid	Moderate
rs1867277	FOXE1 c.-283G>A	Functional 5' UTR variant in the FOXE1 thyroid transcription factor that incr...	Cancer Risk	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	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
rs149007883	NFKBIZ NFKBIZ p.Gly102Ala	Rare protective missense variant in the NF-kB inhibitor zeta gene that reduce...	Hormones & Sleep	Thyroid	Moderate
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
rs944289	FOXE1	Regulatory variant near FOXE1 at 14q13.3 that reduces PTCSC3 tumor suppressor...	Cancer Risk	Thyroid	Strong
rs4704397	PDE8B PDE8B TSH-associated variant	Intronic variant in PDE8B (phosphodiesterase 8B) strongly associated with ser...	Reproductive Hormones	Thyroid	Strong
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
rs3087243	CTLA4 CT60	Immune checkpoint regulatory variant in the 3'UTR affecting T-cell activation...	Autoimmune Tolerance & T-Cell Regulation	Thyroid	Strong
rs7514229	TNFSF4 TNFSF4 OX40 ligand variant	Intronic variant in TNFSF4 that tags an upstream regulatory haplotype associa...	Interferon Signaling & Systemic Autoimmune	Thyroid	Moderate
rs3789604	RSBN1	Synonymous RSBN1 variant that tags a PTPN22 locus haplotype independently ass...	Autoimmune Tolerance & T-Cell Regulation	Thyroid	Moderate
rs1991517	TSHR Asp727Glu	Affects TSH receptor sensitivity and thyroid hormone regulation; influences T...	Hormones & Sleep	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
rs2016105	ELK3 ELK3 TSH regulatory variant	Intronic regulatory variant in ELK3 influencing circulating TSH levels and hy...	Hormones & Sleep	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
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
rs34536443	TYK2 TYK2 p.Pro1104Ala	A missense variant in TYK2 that partially impairs JAK-family signaling downst...	Hormones & Sleep	Thyroid	Strong
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