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rs60586163

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs60586163(C;G)
Make rs60586163(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position52519137
GeneKRT5
is asnp
is mentioned by
dbSNPrs60586163
ebirs60586163
HLIrs60586163
Exacrs60586163
Varsomers60586163
Maprs60586163
PheGenIrs60586163
hapmaprs60586163
1000 genomesrs60586163
hgdprs60586163
ensemblrs60586163
gopubmedrs60586163
geneviewrs60586163
scholarrs60586163
googlers60586163
pharmgkbrs60586163
gwascentralrs60586163
openSNPrs60586163
23andMers60586163
23andMe allrs60586163
SNP Nexus

SNPshotrs60586163
SNPdbers60586163
MSV3drs60586163
GWAS Ctlgrs60586163
Max Magnitude0
OMIM148040
Desc
Variant0007
Relatedalso


ClinVar
Risk rs60586163(A,G,T;A,G,T)
Alt rs60586163(A,G,T;A,G,T)
Reference rs60586163(C;C)
Significance Pathogenic
Disease not provided Epidermolysis bullosa simplex
Variation info
Gene KRT5
CLNDBN not provided Epidermolysis bullosa simplex, Cockayne-Touraine type
Reversed 1
HGVS NC_000012.11:g.52912921G>A; NC_000012.11:g.52912921G>C; NC_000012.11:g.52912921G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000056633.1, RCV000015750.25, RCV000056632.1, RCV000056631.1,