Have questions? Visit https://www.reddit.com/r/SNPedia

rs4796697

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs4796697(A;A)
Make rs4796697(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position41502942
GeneKRT13
is asnp
is mentioned by
dbSNPrs4796697
ebirs4796697
HLIrs4796697
Exacrs4796697
Varsomers4796697
Maprs4796697
PheGenIrs4796697
hapmaprs4796697
1000 genomesrs4796697
hgdprs4796697
ensemblrs4796697
gopubmedrs4796697
geneviewrs4796697
scholarrs4796697
googlers4796697
pharmgkbrs4796697
gwascentralrs4796697
openSNPrs4796697
23andMers4796697
23andMe allrs4796697
SNP Nexus

SNPshotrs4796697
SNPdbers4796697
MSV3drs4796697
GWAS Ctlgrs4796697
GMAF0.08448
Max Magnitude0
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene KRT13
allele C
frequency 1
sift TOLERATED
HuRef 1103645324577
Disease Association Defects in KRT13 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.



Neighborrs9891361
Distance719


GET Evidence
KRT13-T298A
aa_change Thr298Ala
aa_change_short T298A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.913181
summary