rs80358304

Orientation

minus

Stabilized

minus

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

Make rs80358304(C;T)

Make rs80358304(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

86951243

Gene	FZD4, PRSS23

is a	snp
is	mentioned by
dbSNP	rs80358304
dbSNP (classic)	rs80358304
ClinGen	rs80358304
ebi	rs80358304
HLI	rs80358304
Exac	rs80358304
Gnomad	rs80358304
Varsome	rs80358304
LitVar	rs80358304
Map	rs80358304
PheGenI	rs80358304
Biobank	rs80358304
1000 genomes	rs80358304
hgdp	rs80358304
ensembl	rs80358304
geneview	rs80358304
scholar	rs80358304
google	rs80358304
pharmgkb	rs80358304
gwascentral	rs80358304
openSNP	rs80358304
23andMe	rs80358304
SNPshot	rs80358304
SNPdbe	rs80358304
MSV3d	rs80358304
GWAS Ctlg	rs80358304

Max Magnitude

0

ClinVar
Risk	rs80358304(T;T)
Alt	rs80358304(T;T)
Reference	Rs80358304(C;C)
Significance	Pathogenic
Disease	Familial exudative vitreoretinopathy
Variation	info
Gene	FZD4
CLNDBN	Familial exudative vitreoretinopathy
Reversed	1
HGVS	NC_000011.9:g.86662285G>A
CLNSRC
CLNACC

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