rs80358281

Orientation

minus

Stabilized

minus

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

Make rs80358281(A;A)

Make rs80358281(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

86954979

Gene	FZD4, LOC100506368

is a	snp
is	mentioned by
dbSNP	rs80358281
dbSNP (classic)	rs80358281
ClinGen	rs80358281
ebi	rs80358281
HLI	rs80358281
Exac	rs80358281
Gnomad	rs80358281
Varsome	rs80358281
LitVar	rs80358281
Map	rs80358281
PheGenI	rs80358281
Biobank	rs80358281
1000 genomes	rs80358281
hgdp	rs80358281
ensembl	rs80358281
geneview	rs80358281
scholar	rs80358281
google	rs80358281
pharmgkb	rs80358281
gwascentral	rs80358281
openSNP	rs80358281
23andMe	rs80358281
SNPshot	rs80358281
SNPdbe	rs80358281
MSV3d	rs80358281
GWAS Ctlg	rs80358281

Max Magnitude

0

ClinVar
Risk	rs80358281(A;A)
Alt	rs80358281(A;A)
Reference	Rs80358281(G;G)
Significance	Pathogenic
Disease	Familial exudative vitreoretinopathy
Variation	info
Gene	FZD4 LOC100506368
CLNDBN	Familial exudative vitreoretinopathy
Reversed	1
HGVS	NC_000011.9:g.86666021C>T
CLNSRC
CLNACC

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