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rs60725382

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs60725382(A;A)
Make rs60725382(A;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position41584410
GeneKRT14
is asnp
is mentioned by
dbSNPrs60725382
dbSNP (classic)rs60725382
ClinGenrs60725382
ebirs60725382
HLIrs60725382
Exacrs60725382
Gnomadrs60725382
Varsomers60725382
LitVarrs60725382
Maprs60725382
PheGenIrs60725382
Biobankrs60725382
1000 genomesrs60725382
hgdprs60725382
ensemblrs60725382
geneviewrs60725382
scholarrs60725382
googlers60725382
pharmgkbrs60725382
gwascentralrs60725382
openSNPrs60725382
23andMers60725382
SNPshotrs60725382
SNPdbers60725382
MSV3drs60725382
GWAS Ctlgrs60725382
Max Magnitude0
OMIM148066
Desc
Variant0006
Relatedalso


ClinVar
Risk rs60725382(A;A)
Alt rs60725382(A;A)
Reference Rs60725382(T;T)
Significance Pathogenic
Disease Epidermolysis bullosa simplex not provided
Variation info
Gene KRT14
CLNDBN Epidermolysis bullosa simplex, autosomal recessive not provided
Reversed 1
HGVS NC_000017.10:g.39740662A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015720.22, RCV000056746.1,