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rs57977969

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs57977969(A;T)
Make rs57977969(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position52680128
GeneKRT1
is asnp
is mentioned by
dbSNPrs57977969
ebirs57977969
HLIrs57977969
Exacrs57977969
Varsomers57977969
Maprs57977969
PheGenIrs57977969
hapmaprs57977969
1000 genomesrs57977969
hgdprs57977969
ensemblrs57977969
gopubmedrs57977969
geneviewrs57977969
scholarrs57977969
googlers57977969
pharmgkbrs57977969
gwascentralrs57977969
openSNPrs57977969
23andMers57977969
23andMe allrs57977969
SNP Nexus

SNPshotrs57977969
SNPdbers57977969
MSV3drs57977969
GWAS Ctlgrs57977969
Max Magnitude0
OMIM139350
Desc
Variant0004
Relatedalso


ClinVar
Risk rs57977969(T;T)
Alt rs57977969(T;T)
Reference rs57977969(A;A)
Significance Pathogenic
Disease Palmoplantar keratoderma not provided
Variation info
Gene KRT1
CLNDBN Palmoplantar keratoderma, nonepidermolytic not provided
Reversed 1
HGVS NC_000012.11:g.53073912T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017261.27, RCV000057080.1,