rs80358285

Orientation

minus

Stabilized

minus

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

Make rs80358285(C;C)

Make rs80358285(C;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

86952442

Gene	FZD4, PRSS23

is a	snp
is	mentioned by
dbSNP	rs80358285
dbSNP (classic)	rs80358285
ClinGen	rs80358285
ebi	rs80358285
HLI	rs80358285
Exac	rs80358285
Gnomad	rs80358285
Varsome	rs80358285
LitVar	rs80358285
Map	rs80358285
PheGenI	rs80358285
Biobank	rs80358285
1000 genomes	rs80358285
hgdp	rs80358285
ensembl	rs80358285
geneview	rs80358285
scholar	rs80358285
google	rs80358285
pharmgkb	rs80358285
gwascentral	rs80358285
openSNP	rs80358285
23andMe	rs80358285
SNPshot	rs80358285
SNPdbe	rs80358285
MSV3d	rs80358285
GWAS Ctlg	rs80358285

Max Magnitude

0

ClinVar
Risk	rs80358285(C;C)
Alt	rs80358285(C;C)
Reference	Rs80358285(T;T)
Significance	Pathogenic
Disease	Familial exudative vitreoretinopathy
Variation	info
Gene	FZD4
CLNDBN	Familial exudative vitreoretinopathy
Reversed	1
HGVS	NC_000011.9:g.86663484A>G
CLNSRC
CLNACC

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