Tag

Multiple Sclerosis

19 genetic variants with this tag.

RSID	Gene	Description	Category
rs11568821	LOC105373977 PDCD1/LOC105373977 PD1.3	Intronic regulatory variant near the PDCD1 (PD-1) immune checkpoint locus tha...	Autoimmune Tolerance & T-Cell Regulation	Multiple Sclerosis	Moderate
rs10984447	DBC1 DBC1 multiple sclerosis susceptibility variant	Intronic variant in DBC1 (DBCCR1/BRINP1) at 9q33.1 associated with multiple s...	TNF, NF-kB & Inflammatory Cytokines	Multiple Sclerosis	Moderate
rs2256774	IL2RA	Intronic IL2RA variant that modulates soluble IL-2RA shedding and Treg signal...	Autoimmune Tolerance & T-Cell Regulation	Multiple Sclerosis	Moderate
rs11808092	EVI5	Missense variant in EVI5's coiled-coil domain altering immune cell traffickin...	Neurology & Cognition	Multiple Sclerosis	Strong
rs2546890	LOC285626 LOC285626 rs2546890	Regulatory variant upstream of IL12B associated with increased risk of multip...	Psoriasis & Spondyloarthropathy	Multiple Sclerosis	Strong
rs12044852	CD58	Intronic CD58 variant in strong LD with rs2300747 (r²=0.929); the C allele dr...	Neurology & Cognition	Multiple Sclerosis	Strong
rs2469434	CD226	Deep-intronic variant in the CD226 (DNAM-1) co-stimulatory receptor gene asso...	Autoimmune Tolerance & T-Cell Regulation	Multiple Sclerosis	Moderate
rs1335532	CD58	Intronic CD58 variant that sits inside the miR-548ac stem-loop; the A allele ...	Neurology & Cognition	Multiple Sclerosis	Strong
rs1414273	CD58	Intronic CD58 variant hosting the miR-548ac stem-loop; the C allele creates a...	Neurology & Cognition	Multiple Sclerosis	Strong
rs725613	CLEC16A	Intronic variant in the autophagy regulator CLEC16A that alters thymic T-cell...	Autoimmune Tolerance & T-Cell Regulation	Multiple Sclerosis	Strong
rs763361	CD226 Gly307Ser	Missense variant in the T-cell and NK-cell co-stimulatory receptor CD226 (DNA...	Autoimmune Tolerance & T-Cell Regulation	Multiple Sclerosis	Strong
rs1800693	TNFRSF1A	Splice-region variant in TNFR1 that generates a soluble Δ6 isoform mimicking ...	Neurology & Cognition	Multiple Sclerosis	Strong
rs34536443	TYK2 TYK2 p.Pro1104Ala	A missense variant in TYK2 that partially impairs JAK-family signaling downst...	Hormones & Sleep	Multiple Sclerosis	Strong
rs2300747	CD58	Intronic variant in CD58 (LFA-3) that modulates T-cell costimulation and Treg...	Neurology & Cognition	Multiple Sclerosis	Strong
rs2523506	DDX39B	Regulatory variant in the 5' UTR of DDX39B (RNA helicase/mRNA export factor) ...	Neurology & Cognition	Multiple Sclerosis	Strong
rs3135388	HLA-DRA Tag for DRB1*15:01	Tag SNP for HLA-DRB1*15:01 (physically located near HLA-DRA), the strongest g...	Neurology & Cognition	Multiple Sclerosis	Established
rs3194051	IL7R I356V	Exon 8 missense variant in the IL-7 receptor alpha chain (Ile356Val) associat...	Neurology & Cognition	Multiple Sclerosis	Moderate
rs4149584	TNFRSF1A R92Q	Missense variant in TNF receptor 1 that causes low-penetrance TRAPS (recurren...	Neurology & Cognition	Multiple Sclerosis	Strong
rs6897932	IL7R T244I	Splicing variant in the IL-7 receptor alpha chain that shifts the balance tow...	Neurology & Cognition	Multiple Sclerosis	Strong