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rs587777292

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777292(C;T)
Make rs587777292(T;T)
ReferenceGRCh38 38.1/142
Chromosome12
Position52469680
GeneKRT6C
is asnp
is mentioned by
dbSNPrs587777292
ebirs587777292
HLIrs587777292
Exacrs587777292
Varsomers587777292
Maprs587777292
PheGenIrs587777292
hapmaprs587777292
1000 genomesrs587777292
hgdprs587777292
ensemblrs587777292
gopubmedrs587777292
geneviewrs587777292
scholarrs587777292
googlers587777292
pharmgkbrs587777292
gwascentralrs587777292
openSNPrs587777292
23andMers587777292
23andMe allrs587777292
SNP Nexus

SNPshotrs587777292
SNPdbers587777292
MSV3drs587777292
GWAS Ctlgrs587777292
Max Magnitude0
ClinVar
Risk rs587777292(C,T;C,T)
Alt rs587777292(C,T;C,T)
Reference rs587777292(G;G)
Significance Pathogenic
Disease Palmoplantar keratoderma
Variation info
Gene KRT6C
CLNDBN Palmoplantar keratoderma, nonepidermolytic, focal or diffuse
Reversed 1
HGVS NC_000012.11:g.52863464C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000114418.3,