rs80358298

Orientation

minus

Stabilized

minus

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

Make rs80358298(A;A)

Make rs80358298(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

86951293

Gene	FZD4, PRSS23

is a	snp
is	mentioned by
dbSNP	rs80358298
dbSNP (classic)	rs80358298
ClinGen	rs80358298
ebi	rs80358298
HLI	rs80358298
Exac	rs80358298
Gnomad	rs80358298
Varsome	rs80358298
LitVar	rs80358298
Map	rs80358298
PheGenI	rs80358298
Biobank	rs80358298
1000 genomes	rs80358298
hgdp	rs80358298
ensembl	rs80358298
geneview	rs80358298
scholar	rs80358298
google	rs80358298
pharmgkb	rs80358298
gwascentral	rs80358298
openSNP	rs80358298
23andMe	rs80358298
SNPshot	rs80358298
SNPdbe	rs80358298
MSV3d	rs80358298
GWAS Ctlg	rs80358298

Max Magnitude

0

ClinVar
Risk	rs80358298(A;A)
Alt	rs80358298(A;A)
Reference	Rs80358298(G;G)
Significance	Pathogenic
Disease	Familial exudative vitreoretinopathy
Variation	info
Gene	FZD4
CLNDBN	Familial exudative vitreoretinopathy
Reversed	1
HGVS	NC_000011.9:g.86662335C>T
CLNSRC
CLNACC

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