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rs57599352

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs57599352(C;C)
Make rs57599352(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position52516688
GeneKRT5
is asnp
is mentioned by
dbSNPrs57599352
ebirs57599352
HLIrs57599352
Exacrs57599352
Varsomers57599352
Maprs57599352
PheGenIrs57599352
hapmaprs57599352
1000 genomesrs57599352
hgdprs57599352
ensemblrs57599352
gopubmedrs57599352
geneviewrs57599352
scholarrs57599352
googlers57599352
pharmgkbrs57599352
gwascentralrs57599352
openSNPrs57599352
23andMers57599352
23andMe allrs57599352
SNP Nexus

SNPshotrs57599352
SNPdbers57599352
MSV3drs57599352
GWAS Ctlgrs57599352
Max Magnitude0
OMIM148040
Desc
Variant0002
Relatedalso


ClinVar
Risk rs57599352(C;C)
Alt rs57599352(C;C)
Reference rs57599352(T;T)
Significance Pathogenic
Disease Epidermolysis bullosa simplex not provided
Variation info
Gene KRT5
CLNDBN Epidermolysis bullosa simplex, Koebner type not provided
Reversed 1
HGVS NC_000012.11:g.52910472A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015745.25, RCV000056553.1,