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rs80338742

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338742(-;-)
Make rs80338742(-;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position91146197
GeneDCN
is asnp
is mentioned by
dbSNPrs80338742
ebirs80338742
HLIrs80338742
Exacrs80338742
Varsomers80338742
Maprs80338742
PheGenIrs80338742
hapmaprs80338742
1000 genomesrs80338742
hgdprs80338742
ensemblrs80338742
gopubmedrs80338742
geneviewrs80338742
scholarrs80338742
googlers80338742
pharmgkbrs80338742
gwascentralrs80338742
openSNPrs80338742
23andMers80338742
23andMe allrs80338742
SNP Nexus

SNPshotrs80338742
SNPdbers80338742
MSV3drs80338742
GWAS Ctlgrs80338742
Max Magnitude0
ClinVar
Risk rs80338742(;)
Alt rs80338742(;)
Reference rs80338742(C;C)
Significance Pathogenic
Disease Congenital Stromal Corneal Dystrophy
Variation info
Gene DCN
CLNDBN Congenital Stromal Corneal Dystrophy
Reversed 1
HGVS NC_000012.11:g.91539974delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000020465.4,


[PMID 16935612] A second decorin frame shift mutation in a family with congenital stromal corneal dystrophy.