rs80358287

Orientation

minus

Stabilized

minus

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

Make rs80358287(C;C)

Make rs80358287(C;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

86952215

Gene	FZD4, PRSS23

is a	snp
is	mentioned by
dbSNP	rs80358287
dbSNP (classic)	rs80358287
ClinGen	rs80358287
ebi	rs80358287
HLI	rs80358287
Exac	rs80358287
Gnomad	rs80358287
Varsome	rs80358287
LitVar	rs80358287
Map	rs80358287
PheGenI	rs80358287
Biobank	rs80358287
1000 genomes	rs80358287
hgdp	rs80358287
ensembl	rs80358287
geneview	rs80358287
scholar	rs80358287
google	rs80358287
pharmgkb	rs80358287
gwascentral	rs80358287
openSNP	rs80358287
23andMe	rs80358287
SNPshot	rs80358287
SNPdbe	rs80358287
MSV3d	rs80358287
GWAS Ctlg	rs80358287

Max Magnitude

0

ClinVar
Risk	rs80358287(C;C)
Alt	rs80358287(C;C)
Reference	Rs80358287(T;T)
Significance	Pathogenic
Disease	Familial exudative vitreoretinopathy
Variation	info
Gene	FZD4
CLNDBN	Familial exudative vitreoretinopathy
Reversed	1
HGVS	NC_000011.9:g.86663257A>G
CLNSRC
CLNACC

[PMID 15370539] Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4 mutations (H69Y and C181R).