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rs587777291

From SNPedia

Merged intors267607474
Orientationplus
Stabilizedminus
Geno Mag Summary
(CAAG;CAAG) 0 common in clinvar
(TTG;TTG) 0 common in clinvar
Make rs587777291(-;-)
Make rs587777291(-;TTG)
ReferenceGRCh38 38.1/142
Chromosome12
Position52473220
GeneKRT6C
is asnp
is mentioned by
dbSNPrs587777291
dbSNP (classic)rs587777291
ClinGenrs587777291
ebirs587777291
HLIrs587777291
Exacrs587777291
Gnomadrs587777291
Varsomers587777291
LitVarrs587777291
Maprs587777291
PheGenIrs587777291
Biobankrs587777291
1000 genomesrs587777291
hgdprs587777291
ensemblrs587777291
geneviewrs587777291
scholarrs587777291
googlers587777291
pharmgkbrs587777291
gwascentralrs587777291
openSNPrs587777291
23andMers587777291
SNPshotrs587777291
SNPdbers587777291
MSV3drs587777291
GWAS Ctlgrs587777291
StatusMerged into rs267607474
Max Magnitude0
ClinVar
Risk rs587777291(TTGG;TTGG) rs587777291(G;G)
Alt rs587777291(TTGG;TTGG) rs587777291(G;G)
Reference Rs587777291(CAAG;CAAG)
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,