rs80338741

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs80338741(-;-)

Make rs80338741(-;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

91146171

Gene

DCN

is a	snp
is	mentioned by
dbSNP	rs80338741
dbSNP (classic)	rs80338741
ClinGen	rs80338741
ebi	rs80338741
HLI	rs80338741
Exac	rs80338741
Gnomad	rs80338741
Varsome	rs80338741
LitVar	rs80338741
Map	rs80338741
PheGenI	rs80338741
Biobank	rs80338741
1000 genomes	rs80338741
hgdp	rs80338741
ensembl	rs80338741
geneview	rs80338741
scholar	rs80338741
google	rs80338741
pharmgkb	rs80338741
gwascentral	rs80338741
openSNP	rs80338741
23andMe	rs80338741
SNPshot	rs80338741
SNPdbe	rs80338741
MSV3d	rs80338741
GWAS Ctlg	rs80338741

Max Magnitude

0

OMIM	125255
Desc
Variant	0001
Related	also

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.