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rs11756977

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0
Make rs11756977(C;T)
Make rs11756977(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position56555740
GeneDST
is asnp
is mentioned by
dbSNPrs11756977
ebirs11756977
HLIrs11756977
Exacrs11756977
Varsomers11756977
Maprs11756977
PheGenIrs11756977
hapmaprs11756977
1000 genomesrs11756977
hgdprs11756977
ensemblrs11756977
gopubmedrs11756977
geneviewrs11756977
scholarrs11756977
googlers11756977
pharmgkbrs11756977
gwascentralrs11756977
openSNPrs11756977
23andMers11756977
23andMe allrs11756977
SNP Nexus

SNPshotrs11756977
SNPdbers11756977
MSV3drs11756977
GWAS Ctlgrs11756977
GMAF0.3104
Max Magnitude0
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene DST
allele T
frequency 0.3
sift TOLERATED
HuRef 1103652875449
Disease Association BPAG1 is an autoantigen of bullous pemphigoid (MIM:600088). It is an autoimmune subepithelial skin blistering disease.



GET Evidence
DST-R2617H
aa_change Arg2617His
aa_change_short R2617H
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.351562
summary