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rs80338741

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80338741(-;-)
Make rs80338741(-;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position91146171
GeneDCN
is asnp
is mentioned by
dbSNPrs80338741
ebirs80338741
HLIrs80338741
Exacrs80338741
Varsomers80338741
Maprs80338741
PheGenIrs80338741
hapmaprs80338741
1000 genomesrs80338741
hgdprs80338741
ensemblrs80338741
gopubmedrs80338741
geneviewrs80338741
scholarrs80338741
googlers80338741
pharmgkbrs80338741
gwascentralrs80338741
openSNPrs80338741
23andMers80338741
23andMe allrs80338741
SNP Nexus

SNPshotrs80338741
SNPdbers80338741
MSV3drs80338741
GWAS Ctlgrs80338741
Max Magnitude0
OMIM125255
Desc
Variant0001
Relatedalso
ClinVar
Risk rs80338741(;)
Alt rs80338741(;)
Reference rs80338741(T;T)
Significance Pathogenic
Disease Congenital Stromal Corneal Dystrophy
Variation info
Gene DCN
CLNDBN Congenital Stromal Corneal Dystrophy
Reversed 1
HGVS NC_000012.11:g.91539948delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000018366.28,


[PMID 5304426] Dystrophia corneae parenchymatosa congenita. A clinical, morphological and histochemical examination.

[PMID 15671264] Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene.