rs80358284

Orientation

minus

Stabilized

minus

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

Make rs80358284(A;G)

Make rs80358284(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

86952443

Gene	FZD4, PRSS23

is a	snp
is	mentioned by
dbSNP	rs80358284
dbSNP (classic)	rs80358284
ClinGen	rs80358284
ebi	rs80358284
HLI	rs80358284
Exac	rs80358284
Gnomad	rs80358284
Varsome	rs80358284
LitVar	rs80358284
Map	rs80358284
PheGenI	rs80358284
Biobank	rs80358284
1000 genomes	rs80358284
hgdp	rs80358284
ensembl	rs80358284
geneview	rs80358284
scholar	rs80358284
google	rs80358284
pharmgkb	rs80358284
gwascentral	rs80358284
openSNP	rs80358284
23andMe	rs80358284
SNPshot	rs80358284
SNPdbe	rs80358284
MSV3d	rs80358284
GWAS Ctlg	rs80358284

Max Magnitude

0

ClinVar
Risk	rs80358284(G;G) rs80358284(T;T)
Alt	rs80358284(G;G) rs80358284(T;T)
Reference	Rs80358284(A;A)
Significance	Pathogenic
Disease	Exudative retinopathy Familial exudative vitreoretinopathy not provided
Variation	info
Gene	PRSS23 FZD4
CLNDBN	Exudative retinopathy Familial exudative vitreoretinopathy not provided
Reversed	1
HGVS	NC_000011.9:g.86663485T>C
CLNSRC
CLNACC	RCV000210241.1, RCV000255410.2,

[PMID 14507768] Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity.

[PMID 15035989] Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair.