rs80358302

Orientation

minus

Stabilized

minus

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

Make rs80358302(-;-)

Make rs80358302(-;A)

Reference

GRCh38 38.1/141

Chromosome

11

Position

86951258

Gene	FZD4, PRSS23

is a	snp
is	mentioned by
dbSNP	rs80358302
dbSNP (classic)	rs80358302
ClinGen	rs80358302
ebi	rs80358302
HLI	rs80358302
Exac	rs80358302
Gnomad	rs80358302
Varsome	rs80358302
LitVar	rs80358302
Map	rs80358302
PheGenI	rs80358302
Biobank	rs80358302
1000 genomes	rs80358302
hgdp	rs80358302
ensembl	rs80358302
geneview	rs80358302
scholar	rs80358302
google	rs80358302
pharmgkb	rs80358302
gwascentral	rs80358302
openSNP	rs80358302
23andMe	rs80358302
SNPshot	rs80358302
SNPdbe	rs80358302
MSV3d	rs80358302
GWAS Ctlg	rs80358302

Max Magnitude

0

ClinVar
Risk
Alt
Reference	Rs80358302(A;A)
Significance	Pathogenic
Disease	Familial exudative vitreoretinopathy
Variation	info
Gene	FZD4
CLNDBN	Familial exudative vitreoretinopathy
Reversed	1
HGVS	NC_000011.9:g.86662300delT
CLNSRC
CLNACC

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