rs80358192

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;T)	4	Corneal dystrophy Fuchs endothelial 1
(T;T)	0	common in complete genomics

Make rs80358192(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

36098332

Gene

COL8A2

is a	snp
is	mentioned by
dbSNP	rs80358192
dbSNP (classic)	rs80358192
ClinGen	rs80358192
ebi	rs80358192
HLI	rs80358192
Exac	rs80358192
Gnomad	rs80358192
Varsome	rs80358192
LitVar	rs80358192
Map	rs80358192
PheGenI	rs80358192
Biobank	rs80358192
1000 genomes	rs80358192
hgdp	rs80358192
ensembl	rs80358192
geneview	rs80358192
scholar	rs80358192
google	rs80358192
pharmgkb	rs80358192
gwascentral	rs80358192
openSNP	rs80358192
23andMe	rs80358192
SNPshot	rs80358192
SNPdbe	rs80358192
MSV3d	rs80358192
GWAS Ctlg	rs80358192

Max Magnitude

4

OMIM	120252
Desc
Variant	0003
Related	also

ClinVar
Risk	rs80358192(C;C) rs80358192(G;G)
Alt	rs80358192(C;C) rs80358192(G;G)
Reference	Rs80358192(T;T)
Significance	Pathogenic
Disease	Corneal dystrophy Corneal dystrophy
Variation	info
Gene	COL8A2
CLNDBN	Corneal dystrophy, Fuchs endothelial 1 Corneal dystrophy, posterior polymorphous, 2
Reversed	1
HGVS	NC_000001.10:g.36563933A>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018687.28, RCV000018688.28,