Tag

JAK-STAT Signaling

17 genetic variants with this tag.

RSID	Gene	Description	Category
rs10045431	IL12B	Upstream tagging SNP at the IL12B locus that marks the Th1/Th17 risk haplotyp...	Psoriasis & Spondyloarthropathy	JAK-STAT Signaling	Strong
rs12720270	TYK2 TYK2 Intron 7 Splicing Variant	An intronic variant in TYK2 intron 7 that promotes exon 8 inclusion in the ma...	Autoimmune Tolerance & T-Cell Regulation	JAK-STAT Signaling	Moderate
rs12720356	TYK2 Ile684Ser	A missense variant in the TYK2 pseudokinase (JH2) domain that partially impai...	Autoimmune Tolerance & T-Cell Regulation	JAK-STAT Signaling	Strong
rs12044149	IL23R	Regulatory variant upstream of the IL-23 receptor gene more strongly associat...	IBD & Mucosal Immunity	JAK-STAT Signaling	Strong
rs2304256	TYK2 TYK2 V362F	A common missense and splicing variant in TYK2 that promotes exon 8 inclusion...	Autoimmune Tolerance & T-Cell Regulation	JAK-STAT Signaling	Strong
rs12368672	STAT6 STAT6 intronic variant	Deep intronic variant in STAT6 that modulates IL-4/IL-13 signal transduction;...	Allergy & Atopic Disease	JAK-STAT Signaling	Moderate
rs1295685	IL13	3'-UTR regulatory variant in IL13 that influences IL-13 mRNA stability and ex...	Allergy & Atopic Disease	JAK-STAT Signaling	Moderate
rs35018800	TYK2 TYK2 Ala928Val	A rare missense variant in the TYK2 pseudokinase (JH2) domain that partially ...	Autoimmune Tolerance & T-Cell Regulation	JAK-STAT Signaling	Strong
rs3816769	STAT3 STAT3 co-variant	Intronic STAT3 variant where the T allele (reference, ~66%) increases risk fo...	TNF, NF-kB & Inflammatory Cytokines	JAK-STAT Signaling	Moderate
rs559406	PTPN2	Intronic PTPN2 variant whose G allele reduces T-cell protein tyrosine phospha...	Autoimmune Tolerance & T-Cell Regulation	JAK-STAT Signaling	Moderate
rs4845625	IL6R	Intronic IL6R variant associated with coronary artery disease risk, elevated ...	TNF, NF-kB & Inflammatory Cytokines	JAK-STAT Signaling	Moderate
rs4537545	IL6R IL6R intron variant	Intronic IL6R variant in linkage disequilibrium with the functional Asp358Ala...	Coronary Artery Disease & Atherosclerosis	JAK-STAT Signaling	Strong
rs167769	STAT6	Intronic variant in STAT6 (intron 2) that forms a functional haplotype with r...	Allergy & Atopic Disease	JAK-STAT Signaling	Strong
rs1805010	IL4R Ile75Val	Missense variant in the extracellular domain of the IL-4 receptor alpha chain...	Allergy & Atopic Disease	JAK-STAT Signaling	Moderate
rs3024971	STAT6	Intronic variant in STAT6 near the 3' end of the gene that modulates STAT6 mR...	Allergy & Atopic Disease	JAK-STAT Signaling	Moderate
rs324011	STAT6	Intronic variant in STAT6 (intron 2) that creates an NF-κB binding site, incr...	Allergy & Atopic Disease	JAK-STAT Signaling	Strong
rs324013	STAT6	Promoter variant in STAT6 that alters transcription factor binding; the T all...	Allergy & Atopic Disease	JAK-STAT Signaling	Moderate