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rs2228043

From SNPedia

Orientationminus
Stabilizedminus
Make rs2228043(C;C)
Make rs2228043(C;G)
Make rs2228043(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position55956103
GeneIL6ST
is asnp
is mentioned by
dbSNPrs2228043
ebirs2228043
HLIrs2228043
Exacrs2228043
Varsomers2228043
Maprs2228043
PheGenIrs2228043
hapmaprs2228043
1000 genomesrs2228043
hgdprs2228043
ensemblrs2228043
gopubmedrs2228043
geneviewrs2228043
scholarrs2228043
googlers2228043
pharmgkbrs2228043
gwascentralrs2228043
openSNPrs2228043
23andMers2228043
23andMe allrs2228043
SNP Nexus

SNPshotrs2228043
SNPdbers2228043
MSV3drs2228043
GWAS Ctlgrs2228043
GMAF0.1552
Max Magnitude
? (C;C) (C;G) (G;G) 28


Venter snp
Source plos
Gene IL6ST
allele C
frequency 0.117
sift TOLERATED
HuRef 1103654105125
Disease Association Isoform 2 is an autoantigen found in rheumatoid arthritis (RA) but it is not specific to patients with RA.



[PMID 17664290OA-icon.png] Signal transducer of inflammation gp130 modulates atherosclerosis in mice and man.


GET Evidence
IL6ST-L397V
aa_change Leu397Val
aa_change_short L397V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.186745
summary



[PMID 23238918] Genome-wide pathway analysis of a genome-wide association study on multiple sclerosis.