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rs57348201

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs57348201(A;T)
Make rs57348201(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position52516662
GeneKRT5, LOC100129218
is asnp
is mentioned by
dbSNPrs57348201
ebirs57348201
HLIrs57348201
Exacrs57348201
Varsomers57348201
Maprs57348201
PheGenIrs57348201
hapmaprs57348201
1000 genomesrs57348201
hgdprs57348201
ensemblrs57348201
gopubmedrs57348201
geneviewrs57348201
scholarrs57348201
googlers57348201
pharmgkbrs57348201
gwascentralrs57348201
openSNPrs57348201
23andMers57348201
23andMe allrs57348201
SNP Nexus

SNPshotrs57348201
SNPdbers57348201
MSV3drs57348201
GWAS Ctlgrs57348201
Max Magnitude0
OMIM148040
Desc
Variant0016
Relatedalso


ClinVar
Risk rs57348201(C,T;C,T)
Alt rs57348201(C,T;C,T)
Reference rs57348201(A;A)
Significance Pathogenic
Disease Epidermolysis bullosa simplex not provided
Variation info
Gene KRT5
CLNDBN Epidermolysis bullosa simplex, generalized, with severe palmoplantar keratosis not provided
Reversed 1
HGVS NC_000012.11:g.52910446T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015760.25, RCV000056560.1,