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rs9891361

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs9891361(A;G)
Make rs9891361(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position41503661
GeneKRT13
is asnp
is mentioned by
dbSNPrs9891361
ebirs9891361
HLIrs9891361
Exacrs9891361
Varsomers9891361
Maprs9891361
PheGenIrs9891361
hapmaprs9891361
1000 genomesrs9891361
hgdprs9891361
ensemblrs9891361
gopubmedrs9891361
geneviewrs9891361
scholarrs9891361
googlers9891361
pharmgkbrs9891361
gwascentralrs9891361
openSNPrs9891361
23andMers9891361
23andMe allrs9891361
SNP Nexus

SNPshotrs9891361
SNPdbers9891361
MSV3drs9891361
GWAS Ctlgrs9891361
GMAF0.2732
Max Magnitude0
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene KRT13
allele A
frequency 0.075
sift AFFECT FUNCTION
HuRef 1103645324565
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.



Neighborrs4796697
Distance719


GET Evidence
KRT13-A187V
aa_change Ala187Val
aa_change_short A187V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.691578
summary