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rs57890479

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs57890479(C;T)
Make rs57890479(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position52519774
GeneKRT5
is asnp
is mentioned by
dbSNPrs57890479
ebirs57890479
HLIrs57890479
Exacrs57890479
Varsomers57890479
Maprs57890479
PheGenIrs57890479
hapmaprs57890479
1000 genomesrs57890479
hgdprs57890479
ensemblrs57890479
gopubmedrs57890479
geneviewrs57890479
scholarrs57890479
googlers57890479
pharmgkbrs57890479
gwascentralrs57890479
openSNPrs57890479
23andMers57890479
23andMe allrs57890479
SNP Nexus

SNPshotrs57890479
SNPdbers57890479
MSV3drs57890479
GWAS Ctlgrs57890479
Max Magnitude0
OMIM148040
Desc
Variant0008
Relatedalso
ClinVar
Risk rs57890479(T;T)
Alt rs57890479(T;T)
Reference rs57890479(C;C)
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.52913558G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015751.25, RCV000056608.1,