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rs58058996

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs58058996(G;G)
Make rs58058996(G;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position52519815
GeneKRT5
is asnp
is mentioned by
dbSNPrs58058996
ebirs58058996
HLIrs58058996
Exacrs58058996
Varsomers58058996
Maprs58058996
PheGenIrs58058996
hapmaprs58058996
1000 genomesrs58058996
hgdprs58058996
ensemblrs58058996
gopubmedrs58058996
geneviewrs58058996
scholarrs58058996
googlers58058996
pharmgkbrs58058996
gwascentralrs58058996
openSNPrs58058996
23andMers58058996
23andMe allrs58058996
SNP Nexus

SNPshotrs58058996
SNPdbers58058996
MSV3drs58058996
GWAS Ctlgrs58058996
Max Magnitude0
OMIM148040
Desc
Variant0003
Relatedalso


ClinVar
Risk rs58058996(G;G)
Alt rs58058996(G;G)
Reference rs58058996(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.52913599A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015746.25, RCV000056597.1,