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rs267607474

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CAA;CAA) 0 common in clinvar
Make rs267607474(-;-)
Make rs267607474(-;CAA)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position52473223
GeneKRT6C, LOC107984511
is asnp
is mentioned by
dbSNPrs267607474
dbSNP (classic)rs267607474
ClinGenrs267607474
ebirs267607474
HLIrs267607474
Exacrs267607474
Gnomadrs267607474
Varsomers267607474
LitVarrs267607474
Maprs267607474
PheGenIrs267607474
Biobankrs267607474
1000 genomesrs267607474
hgdprs267607474
ensemblrs267607474
geneviewrs267607474
scholarrs267607474
googlers267607474
pharmgkbrs267607474
gwascentralrs267607474
openSNPrs267607474
23andMers267607474
SNPshotrs267607474
SNPdbers267607474
MSV3drs267607474
GWAS Ctlgrs267607474
Merged fromRs587777291
Max Magnitude0
ClinVar
Risk rs267607474(-;-)
Alt rs267607474(-;-)
Reference Rs267607474(CAA;CAA)
Significance Pathogenic
Disease not provided Palmoplantar keratoderma
Variation info
Gene KRT6C
CLNDBN not provided Palmoplantar keratoderma, nonepidermolytic, focal
Reversed 1
HGVS NC_000012.11:g.52867004_52867006delTTG
CLNSRC OMIM Allelic Variant
CLNACC RCV000057500.1, RCV000114416.2,