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rs60715293

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs60715293(C;C)
Make rs60715293(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position52519756
GeneKRT5
is asnp
is mentioned by
dbSNPrs60715293
ebirs60715293
HLIrs60715293
Exacrs60715293
Varsomers60715293
Maprs60715293
PheGenIrs60715293
hapmaprs60715293
1000 genomesrs60715293
hgdprs60715293
ensemblrs60715293
gopubmedrs60715293
geneviewrs60715293
scholarrs60715293
googlers60715293
pharmgkbrs60715293
gwascentralrs60715293
openSNPrs60715293
23andMers60715293
23andMe allrs60715293
SNP Nexus

SNPshotrs60715293
SNPdbers60715293
MSV3drs60715293
GWAS Ctlgrs60715293
Max Magnitude0
OMIM148040
Desc
Variant0012
Relatedalso


ClinVar
Risk rs60715293(C;C)
Alt rs60715293(C;C)
Reference rs60715293(T;T)
Significance Pathogenic
Disease Epidermolysis bullosa herpetiformis not provided
Variation info
Gene KRT5
CLNDBN Epidermolysis bullosa herpetiformis, Dowling-Meara not provided
Reversed 1
HGVS NC_000012.11:g.52913540A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015756.25, RCV000056615.1,