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rs60271599

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs60271599(C;C)
Make rs60271599(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position52516676
GeneKRT5
is asnp
is mentioned by
dbSNPrs60271599
dbSNP (classic)rs60271599
ClinGenrs60271599
ebirs60271599
HLIrs60271599
Exacrs60271599
Gnomadrs60271599
Varsomers60271599
LitVarrs60271599
Maprs60271599
PheGenIrs60271599
Biobankrs60271599
1000 genomesrs60271599
hgdprs60271599
ensemblrs60271599
geneviewrs60271599
scholarrs60271599
googlers60271599
pharmgkbrs60271599
gwascentralrs60271599
openSNPrs60271599
23andMers60271599
SNPshotrs60271599
SNPdbers60271599
MSV3drs60271599
GWAS Ctlgrs60271599
Max Magnitude0
ClinVar
Risk rs60271599(C;C)
Alt rs60271599(C;C)
Reference Rs60271599(T;T)
Significance Pathogenic
Disease not provided
Variation info
Gene KRT5
CLNDBN not provided
Reversed 1
HGVS NC_000012.11:g.52910460A>G
CLNSRC UniProtKB (protein)
CLNACC RCV000056556.1,