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rs7959052

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs7959052(C;C)
Make rs7959052(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position52811973
GeneKRT4
is asnp
is mentioned by
dbSNPrs7959052
dbSNP (old)rs7959052
ClinGenrs7959052
ebirs7959052
HLIrs7959052
Exacrs7959052
Gnomadrs7959052
Varsomers7959052
Maprs7959052
PheGenIrs7959052
Biobankrs7959052
1000 genomesrs7959052
hgdprs7959052
ensemblrs7959052
gopubmedrs7959052
geneviewrs7959052
scholarrs7959052
googlers7959052
pharmgkbrs7959052
gwascentralrs7959052
openSNPrs7959052
23andMers7959052
23andMe allrs7959052
SNP Nexus

SNPshotrs7959052
SNPdbers7959052
MSV3drs7959052
GWAS Ctlgrs7959052
GMAF0.2328
Max Magnitude0
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene KRT4
allele C
frequency 0.233
sift AFFECT FUNCTION
HuRef 1103649443385
Disease Association Defects in KRT4 are a cause of white sponge nevus of cannon (WSN) (MIM:193900). WSN is a rare autosomal dominant disorder which predominantly affects noncornified stratified squamous epithelia. Clinically, it is characterized by the presence of soft, white, and spongy plaques in the oral mucosa. The characteristic histopathologic features are epithelial thickening, parakeratosis, and vacuolization of the suprabasal layer of oral epithelial keratinocytes. Less frequently the mucous membranes of the nose, esophagus, genitalia and rectum are involved.



GET Evidence
KRT4-Q230R
aa_change Gln230Arg
aa_change_short Q230R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.294197
summary



ClinVar
Risk rs7959052(C;C)
Alt rs7959052(C;C)
Reference Rs7959052(T;T)
Significance Non-pathogenic
Disease White sponge nevus of cannon
Variation info
Gene KRT4
CLNDBN White sponge nevus of cannon
Reversed 0
HGVS NC_000012.11:g.53205757T>C
CLNSRC
CLNACC RCV000351655.1,