Tag

B-Cell Signaling

19 genetic variants with this tag.

RSID	Gene	Description	Category
rs10516487	BANK1 R61H	BANK1 scaffold protein missense variant that shifts B-cell receptor signaling...	B-Cell Immunity & Antibody-Mediated Disease	B-Cell Signaling	Strong
rs11264799	FCRL3	Upstream regulatory variant in FCRL3 with a strong eQTL effect on FCRL3 expre...	B-Cell Immunity & Antibody-Mediated Disease	B-Cell Signaling	Emerging
rs13277113	BLK	Regulatory variant upstream of BLK that reduces B-lymphoid tyrosine kinase ex...	B-Cell Immunity & Antibody-Mediated Disease	B-Cell Signaling	Strong
rs17266594	BANK1 Branch-point splice	Intronic branch-point variant in BANK1 that shifts isoform balance toward ful...	B-Cell Immunity & Antibody-Mediated Disease	B-Cell Signaling	Strong
rs12730735	PTPN22	Intronic PTPN22 haplotype tag variant that refines autoimmune risk stratifica...	Autoimmune Tolerance & T-Cell Regulation	B-Cell Signaling	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	B-Cell Signaling	Strong
rs2248932	BLK Promoter/Intronic	Intronic BLK variant in the FAM167A-BLK regulatory locus that reduces B-lymph...	B-Cell Immunity & Antibody-Mediated Disease	B-Cell Signaling	Strong
rs2736340	BLK	FAM167A-BLK region regulatory variant that reduces B-lymphoid tyrosine kinase...	B-Cell Immunity & Antibody-Mediated Disease	B-Cell Signaling	Strong
rs34557412	TNFRSF13B TACI C104R	Missense variant in the TACI receptor's cysteine-rich ligand-binding domain t...	B-Cell Immunity & Antibody-Mediated Disease	B-Cell Signaling	Strong
rs3733197	BANK1 A383T	BANK1 ankyrin-domain missense variant that amplifies B-cell receptor signalin...	B-Cell Immunity & Antibody-Mediated Disease	B-Cell Signaling	Strong
rs4810485	CD40	Intronic variant in CD40 regulating B-cell surface expression; the G allele d...	B-Cell Immunity & Antibody-Mediated Disease	B-Cell Signaling	Strong
rs4840568	BLK	Regulatory variant 2kb upstream of BLK that tags reduced B-lymphoid tyrosine ...	B-Cell Immunity & Antibody-Mediated Disease	B-Cell Signaling	Moderate
rs33980500	TRAF3IP2 D10N	Missense variant in Act1 that abolishes IL-17 signaling by disrupting TRAF6 b...	Psoriasis & Spondyloarthropathy	B-Cell Signaling	Strong
rs6445975	PXK	Intronic PXK variant; the G allele is a replicated GWAS risk allele for syste...	B-Cell Immunity & Antibody-Mediated Disease	B-Cell Signaling	Moderate
rs3890745	MMEL1 MMEL1 rs3890745	Intronic variant near MMEL1 and TNFRSF14 on chromosome 1p36; the C allele is ...	TNF, NF-kB & Inflammatory Cytokines	B-Cell Signaling	Strong
rs7528684	FCRL3 -169C>T	Promoter variant in FCRL3 that alters NF-κB binding and elevates FCRL3 expres...	B-Cell Immunity & Antibody-Mediated Disease	B-Cell Signaling	Moderate
rs9378815	IRF4	Regulatory variant ~15 kb upstream of IRF4 that modulates germinal center B c...	Interferon Signaling & Systemic Autoimmune	B-Cell Signaling	Strong
rs72553883	TNFRSF13B TACI A181E	Missense variant in the TACI transmembrane domain that disrupts receptor clus...	Innate Immunity & Infection Defense	B-Cell Signaling	Strong
rs907091	IKZF3 IKZF3 miRNA Binding Region Variant	A 3'UTR variant in IKZF3 that alters miR-326 binding affinity, reducing Aiolo...	Allergy & Atopic Disease	B-Cell Signaling	Moderate