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rs587777291

From SNPedia

Orientationplus
Stabilizedplus
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
ebirs587777291
HLIrs587777291
Exacrs587777291
Varsomers587777291
Maprs587777291
PheGenIrs587777291
hapmaprs587777291
1000 genomesrs587777291
hgdprs587777291
ensemblrs587777291
gopubmedrs587777291
geneviewrs587777291
scholarrs587777291
googlers587777291
pharmgkbrs587777291
gwascentralrs587777291
openSNPrs587777291
23andMers587777291
23andMe allrs587777291
SNP Nexus

SNPshotrs587777291
SNPdbers587777291
MSV3drs587777291
GWAS Ctlgrs587777291
Max Magnitude0
ClinVar
Risk rs587777291(TTGG,G;TTGG,G)
Alt rs587777291(TTGG,G;TTGG,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,