rs80358191

Orientation

minus

Stabilized

minus

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

Make rs80358191(A;A)

Reference

GRCh38 38.1/141

Chromosome

1

Position

36098318

Gene

COL8A2

is a	snp
is	mentioned by
dbSNP	rs80358191
dbSNP (classic)	rs80358191
ClinGen	rs80358191
ebi	rs80358191
HLI	rs80358191
Exac	rs80358191
Gnomad	rs80358191
Varsome	rs80358191
LitVar	rs80358191
Map	rs80358191
PheGenI	rs80358191
Biobank	rs80358191
1000 genomes	rs80358191
hgdp	rs80358191
ensembl	rs80358191
geneview	rs80358191
scholar	rs80358191
google	rs80358191
pharmgkb	rs80358191
gwascentral	rs80358191
openSNP	rs80358191
23andMe	rs80358191
SNPshot	rs80358191
SNPdbe	rs80358191
MSV3d	rs80358191
GWAS Ctlg	rs80358191

Max Magnitude

4

OMIM	120252
Desc
Variant	0001
Related	also

ClinVar
Risk	rs80358191(A;A)
Alt	rs80358191(A;A)
Reference	Rs80358191(C;C)
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.36563919G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018685.28, RCV000018686.24,