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rs4715630

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0
Make rs4715630(C;C)
Make rs4715630(C;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position56552484
GeneDST
is asnp
is mentioned by
dbSNPrs4715630
ebirs4715630
HLIrs4715630
Exacrs4715630
Varsomers4715630
Maprs4715630
PheGenIrs4715630
hapmaprs4715630
1000 genomesrs4715630
hgdprs4715630
ensemblrs4715630
gopubmedrs4715630
geneviewrs4715630
scholarrs4715630
googlers4715630
pharmgkbrs4715630
gwascentralrs4715630
openSNPrs4715630
23andMers4715630
23andMe allrs4715630
SNP Nexus

SNPshotrs4715630
SNPdbers4715630
MSV3drs4715630
GWAS Ctlgrs4715630
GMAF0.1915
Max Magnitude0
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene DST
allele T
frequency 0.292
sift TOLERATED
HuRef 1103652875455
Disease Association BPAG1 is an autoantigen of bullous pemphigoid (MIM:600088). It is an autoimmune subepithelial skin blistering disease.



GET Evidence
DST-M3317I
aa_change Met3317Ile
aa_change_short M3317I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.796733
summary