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

rs11650915

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 0
(G;G) 0 common in clinvar


Make rs11650915(A;A)
ReferenceGRCh37 37.1/131
Chromosome17
Position39023396
GeneKRT12
is asnp
is mentioned by
dbSNPrs11650915
ebirs11650915
HLIrs11650915
Exacrs11650915
Varsomers11650915
Maprs11650915
PheGenIrs11650915
hapmaprs11650915
1000 genomesrs11650915
hgdprs11650915
ensemblrs11650915
gopubmedrs11650915
geneviewrs11650915
scholarrs11650915
googlers11650915
pharmgkbrs11650915
gwascentralrs11650915
openSNPrs11650915
23andMers11650915
23andMe allrs11650915
SNP Nexus

SNPshotrs11650915
SNPdbers11650915
MSV3drs11650915
GWAS Ctlgrs11650915
GMAF0.3388
Max Magnitude0
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene KRT12
allele A
frequency 0.422
sift TOLERATED
HuRef 1103645323365
Disease Association Defects in KRT12 are a cause of juvenile epithelial corneal dystrophy of Meesmann (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.



Neighborrs28936695
Distance343


GET Evidence
KRT12-P15S
aa_change Pro15Ser
aa_change_short P15S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.267522
summary



ClinVar
Risk rs11650915(A;A)
Alt rs11650915(A;A)
Reference rs11650915(G;G)
Significance Untested
Disease not provided
Variation info
Gene KRT12
CLNDBN not provided
Reversed 0
HGVS NC_000017.10:g.39023396G>A
CLNSRC ClinVar Epithelial Biology
CLNACC RCV000056428.1,