rs80338742

Orientation

minus

Stabilized

minus

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

Make rs80338742(-;-)

Make rs80338742(-;C)

Reference

GRCh38 38.1/141

Chromosome

12

Position

91146197

Gene

DCN

is a	snp
is	mentioned by
dbSNP	rs80338742
dbSNP (classic)	rs80338742
ClinGen	rs80338742
ebi	rs80338742
HLI	rs80338742
Exac	rs80338742
Gnomad	rs80338742
Varsome	rs80338742
LitVar	rs80338742
Map	rs80338742
PheGenI	rs80338742
Biobank	rs80338742
1000 genomes	rs80338742
hgdp	rs80338742
ensembl	rs80338742
geneview	rs80338742
scholar	rs80338742
google	rs80338742
pharmgkb	rs80338742
gwascentral	rs80338742
openSNP	rs80338742
23andMe	rs80338742
SNPshot	rs80338742
SNPdbe	rs80338742
MSV3d	rs80338742
GWAS Ctlg	rs80338742

Max Magnitude

0

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.