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rs60627726

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs60627726(A;A)
Make rs60627726(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position52447788
GeneKRT6B
is asnp
is mentioned by
dbSNPrs60627726
dbSNP (classic)rs60627726
ClinGenrs60627726
ebirs60627726
HLIrs60627726
Exacrs60627726
Gnomadrs60627726
Varsomers60627726
LitVarrs60627726
Maprs60627726
PheGenIrs60627726
Biobankrs60627726
1000 genomesrs60627726
hgdprs60627726
ensemblrs60627726
geneviewrs60627726
scholarrs60627726
googlers60627726
pharmgkbrs60627726
gwascentralrs60627726
openSNPrs60627726
23andMers60627726
SNPshotrs60627726
SNPdbers60627726
MSV3drs60627726
GWAS Ctlgrs60627726
Max Magnitude0
OMIM148042
Desc
Variant0001
Relatedalso


ClinVar
Risk rs60627726(A;A)
Alt rs60627726(A;A)
Reference Rs60627726(G;G)
Significance Pathogenic
Disease Pachyonychia congenita 4 not provided
Variation info
Gene KRT6B
CLNDBN Pachyonychia congenita 4 not provided
Reversed 1
HGVS NC_000012.11:g.52841572C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015739.22, RCV000057023.2,