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rs2638525

From SNPedia

Orientationplus
Stabilizedplus
Make rs2638525(A;A)
Make rs2638525(A;G)
Make rs2638525(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position52813844
GeneKRT4, LOC100288809
is asnp
is mentioned by
dbSNPrs2638525
ebirs2638525
HLIrs2638525
Exacrs2638525
Varsomers2638525
Maprs2638525
PheGenIrs2638525
hapmaprs2638525
1000 genomesrs2638525
hgdprs2638525
ensemblrs2638525
gopubmedrs2638525
geneviewrs2638525
scholarrs2638525
googlers2638525
pharmgkbrs2638525
gwascentralrs2638525
openSNPrs2638525
23andMers2638525
23andMe allrs2638525
SNP Nexus

SNPshotrs2638525
SNPdbers2638525
MSV3drs2638525
GWAS Ctlgrs2638525
GMAF0.1896
Max Magnitude
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene KRT4
allele A
frequency 0.212
sift TOLERATED
HuRef 1103649443393
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-A146V
aa_change Ala146Val
aa_change_short A146V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.237182
summary