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rs4678

From SNPedia

Orientationminus
Stabilizedminus
Make rs4678(C;C)
Make rs4678(C;T)
Make rs4678(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position30926164
GeneVARS2
is asnp
is mentioned by
dbSNPrs4678
ebirs4678
HLIrs4678
Exacrs4678
Varsomers4678
Maprs4678
PheGenIrs4678
hapmaprs4678
1000 genomesrs4678
hgdprs4678
ensemblrs4678
gopubmedrs4678
geneviewrs4678
scholarrs4678
googlers4678
pharmgkbrs4678
gwascentralrs4678
openSNPrs4678
23andMers4678
23andMe allrs4678
SNP Nexus

SNPshotrs4678
SNPdbers4678
MSV3drs4678
GWAS Ctlgrs4678
GMAF0.112
Max Magnitude
? (C;C) (C;T) (T;T) 28
rs4678 is a SNP representing an Arg/Gln variation in the VARS2L gene.

A study of 855 rheumatoid arthritis patients concluded that rs4678 was one of only two SNPs representing an additional susceptibility gene - in addition to HLA-DRB1 - within the MHC region.[PMID 19116923]

There is some inconsistency in this SNP. The reference assembly considers it a A/G while RefSNP calls it a C/T.


[PMID 18204098] Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.


GET Evidence
VARS2-R1049Q
aa_change Arg1049Gln
aa_change_short R1049Q
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.165114
summary