rs80358300

Orientation

minus

Stabilized

minus

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

Make rs80358300(C;T)

Make rs80358300(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

86951266

Gene	FZD4, PRSS23

is a	snp
is	mentioned by
dbSNP	rs80358300
dbSNP (classic)	rs80358300
ClinGen	rs80358300
ebi	rs80358300
HLI	rs80358300
Exac	rs80358300
Gnomad	rs80358300
Varsome	rs80358300
LitVar	rs80358300
Map	rs80358300
PheGenI	rs80358300
Biobank	rs80358300
1000 genomes	rs80358300
hgdp	rs80358300
ensembl	rs80358300
geneview	rs80358300
scholar	rs80358300
google	rs80358300
pharmgkb	rs80358300
gwascentral	rs80358300
openSNP	rs80358300
23andMe	rs80358300
SNPshot	rs80358300
SNPdbe	rs80358300
MSV3d	rs80358300
GWAS Ctlg	rs80358300

Max Magnitude

0

ClinVar
Risk	rs80358300(T;T)
Alt	rs80358300(T;T)
Reference	Rs80358300(C;C)
Significance	Pathogenic
Disease	Familial exudative vitreoretinopathy
Variation	info
Gene	FZD4
CLNDBN	Familial exudative vitreoretinopathy
Reversed	1
HGVS	NC_000011.9:g.86662308G>A
CLNSRC
CLNACC

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