rs80358291

Orientation

minus

Stabilized

minus

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

Make rs80358291(A;A)

Make rs80358291(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

86951799

Gene	FZD4, PRSS23

is a	snp
is	mentioned by
dbSNP	rs80358291
dbSNP (classic)	rs80358291
ClinGen	rs80358291
ebi	rs80358291
HLI	rs80358291
Exac	rs80358291
Gnomad	rs80358291
Varsome	rs80358291
LitVar	rs80358291
Map	rs80358291
PheGenI	rs80358291
Biobank	rs80358291
1000 genomes	rs80358291
hgdp	rs80358291
ensembl	rs80358291
geneview	rs80358291
scholar	rs80358291
google	rs80358291
pharmgkb	rs80358291
gwascentral	rs80358291
openSNP	rs80358291
23andMe	rs80358291
SNPshot	rs80358291
SNPdbe	rs80358291
MSV3d	rs80358291
GWAS Ctlg	rs80358291

Max Magnitude

0

ClinVar
Risk	rs80358291(A;A)
Alt	rs80358291(A;A)
Reference	Rs80358291(G;G)
Significance	Pathogenic
Disease	Familial exudative vitreoretinopathy
Variation	info
Gene	FZD4
CLNDBN	Familial exudative vitreoretinopathy
Reversed	1
HGVS	NC_000011.9:g.86662841C>T
CLNSRC
CLNACC

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