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rs11758339

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0
Make rs11758339(C;T)
Make rs11758339(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position56463051
GeneDST
is asnp
is mentioned by
dbSNPrs11758339
ebirs11758339
HLIrs11758339
Exacrs11758339
Varsomers11758339
Maprs11758339
PheGenIrs11758339
hapmaprs11758339
1000 genomesrs11758339
hgdprs11758339
ensemblrs11758339
gopubmedrs11758339
geneviewrs11758339
scholarrs11758339
googlers11758339
pharmgkbrs11758339
gwascentralrs11758339
openSNPrs11758339
23andMers11758339
23andMe allrs11758339
SNP Nexus

SNPshotrs11758339
SNPdbers11758339
MSV3drs11758339
GWAS Ctlgrs11758339
GMAF0.2034
Max Magnitude0
? (C;C) (C;T) (T;T) 28


Venter snp
Source plos
Gene DST
allele T
frequency 0.283
sift TOLERATED
HuRef 1103652875301
Disease Association BPAG1 is an autoantigen of bullous pemphigoid (MIM:600088). It is an autoimmune subepithelial skin blistering disease.



GET Evidence
DST-A5546T
aa_change Ala5546Thr
aa_change_short A5546T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.207199
summary