rs80358289

Orientation

minus

Stabilized

minus

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

Make rs80358289(A;A)

Make rs80358289(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

86952078

Gene	FZD4, PRSS23

is a	snp
is	mentioned by
dbSNP	rs80358289
dbSNP (classic)	rs80358289
ClinGen	rs80358289
ebi	rs80358289
HLI	rs80358289
Exac	rs80358289
Gnomad	rs80358289
Varsome	rs80358289
LitVar	rs80358289
Map	rs80358289
PheGenI	rs80358289
Biobank	rs80358289
1000 genomes	rs80358289
hgdp	rs80358289
ensembl	rs80358289
geneview	rs80358289
scholar	rs80358289
google	rs80358289
pharmgkb	rs80358289
gwascentral	rs80358289
openSNP	rs80358289
23andMe	rs80358289
SNPshot	rs80358289
SNPdbe	rs80358289
MSV3d	rs80358289
GWAS Ctlg	rs80358289

Max Magnitude

0

ClinVar
Risk	rs80358289(A;A)
Alt	rs80358289(A;A)
Reference	Rs80358289(G;G)
Significance	Pathogenic
Disease	Familial exudative vitreoretinopathy
Variation	info
Gene	FZD4
CLNDBN	Familial exudative vitreoretinopathy
Reversed	1
HGVS	NC_000011.9:g.86663120C>T
CLNSRC
CLNACC

[PMID 15346351] Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.