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rs3887954

From SNPedia

Orientationplus
Stabilizedplus
Make rs3887954(C;C)
Make rs3887954(C;G)
Make rs3887954(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position52792304
GeneKRT3
is asnp
is mentioned by
dbSNPrs3887954
ebirs3887954
HLIrs3887954
Exacrs3887954
Varsomers3887954
Maprs3887954
PheGenIrs3887954
hapmaprs3887954
1000 genomesrs3887954
hgdprs3887954
ensemblrs3887954
gopubmedrs3887954
geneviewrs3887954
scholarrs3887954
googlers3887954
pharmgkbrs3887954
gwascentralrs3887954
openSNPrs3887954
23andMers3887954
23andMe allrs3887954
SNP Nexus

SNPshotrs3887954
SNPdbers3887954
MSV3drs3887954
GWAS Ctlgrs3887954
GMAF0.4353
Max Magnitude
? (C;C) (C;G) (G;G) 28
Venter snp
Source plos
Gene KRT3
allele C
frequency 0.267
sift AFFECT FUNCTION
HuRef 1103649443343
Disease Association Defects in KRT3 are a cause of Meesmann corneal dystrophy (MCD) (MIM:122100). MCD is an autosomal dominant disease that causes fragility of the anterior corneal epithelium. Patients are usually asymptomatic until adulthood when rupture of the corneal microcysts may cause erosions, producing clinical symptoms such as photophobia, contact lens intolerance and intermittent diminution of visual acuity. Rarely, subepithelial scarring causes irregular corneal astigmatism and permanent visual impairment. Histological examination shows a disorganized and thickened epithelium with widespread cytoplasmic vacuolation and numerous small, round, debris-laden intraepithelial cysts.



GET Evidence
KRT3-R375G
aa_change Arg375Gly
aa_change_short R375G
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.582652
summary