rs80358290

Orientation

minus

Stabilized

minus

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

Make rs80358290(-;-)

Make rs80358290(-;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

86951799

Gene	FZD4, PRSS23

is a	snp
is	mentioned by
dbSNP	rs80358290
dbSNP (classic)	rs80358290
ClinGen	rs80358290
ebi	rs80358290
HLI	rs80358290
Exac	rs80358290
Gnomad	rs80358290
Varsome	rs80358290
LitVar	rs80358290
Map	rs80358290
PheGenI	rs80358290
Biobank	rs80358290
1000 genomes	rs80358290
hgdp	rs80358290
ensembl	rs80358290
geneview	rs80358290
scholar	rs80358290
google	rs80358290
pharmgkb	rs80358290
gwascentral	rs80358290
openSNP	rs80358290
23andMe	rs80358290
SNPshot	rs80358290
SNPdbe	rs80358290
MSV3d	rs80358290
GWAS Ctlg	rs80358290

Max Magnitude

0

ClinVar
Risk
Alt
Reference	Rs80358290(G;G)
Significance	Pathogenic
Disease	Familial exudative vitreoretinopathy
Variation	info
Gene	FZD4
CLNDBN	Familial exudative vitreoretinopathy
Reversed	1
HGVS	NC_000011.9:g.86662841delC
CLNSRC
CLNACC

[PMID 15223780] Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy.