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rs58072617

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs58072617(C;C)
Make rs58072617(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position52517702
GeneKRT5
is asnp
is mentioned by
dbSNPrs58072617
ebirs58072617
HLIrs58072617
Exacrs58072617
Varsomers58072617
Maprs58072617
PheGenIrs58072617
hapmaprs58072617
1000 genomesrs58072617
hgdprs58072617
ensemblrs58072617
gopubmedrs58072617
geneviewrs58072617
scholarrs58072617
googlers58072617
pharmgkbrs58072617
gwascentralrs58072617
openSNPrs58072617
23andMers58072617
23andMe allrs58072617
SNP Nexus

SNPshotrs58072617
SNPdbers58072617
MSV3drs58072617
GWAS Ctlgrs58072617
Max Magnitude0
OMIM148040
Desc
Variant0004
Relatedalso


ClinVar
Risk rs58072617(A,C;A,C)
Alt rs58072617(A,C;A,C)
Reference rs58072617(T;T)
Significance Pathogenic
Disease Epidermolysis bullosa simplex not provided
Variation info
Gene KRT5
CLNDBN Epidermolysis bullosa simplex, Cockayne-Touraine type not provided
Reversed 1
HGVS NC_000012.11:g.52911486A>G; NC_000012.11:g.52911486A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015747.25, RCV000056651.1, RCV000056650.1,