rs80358282

Orientation

minus

Stabilized

minus

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

Make rs80358282(C;T)

Make rs80358282(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

86954881

Gene	FZD4, LOC100506368

is a	snp
is	mentioned by
dbSNP	rs80358282
dbSNP (classic)	rs80358282
ClinGen	rs80358282
ebi	rs80358282
HLI	rs80358282
Exac	rs80358282
Gnomad	rs80358282
Varsome	rs80358282
LitVar	rs80358282
Map	rs80358282
PheGenI	rs80358282
Biobank	rs80358282
1000 genomes	rs80358282
hgdp	rs80358282
ensembl	rs80358282
geneview	rs80358282
scholar	rs80358282
google	rs80358282
pharmgkb	rs80358282
gwascentral	rs80358282
openSNP	rs80358282
23andMe	rs80358282
SNPshot	rs80358282
SNPdbe	rs80358282
MSV3d	rs80358282
GWAS Ctlg	rs80358282

GMAF

0.007346

Max Magnitude

0

ClinVar
Risk	rs80358282(T;T)
Alt	rs80358282(T;T)
Reference	Rs80358282(C;C)
Significance	Probable-non-pathogenic
Disease	not provided Familial exudative vitreoretinopathy
Variation	info
Gene	FZD4 LOC100506368
CLNDBN	not provided Familial exudative vitreoretinopathy
Reversed	1
HGVS	NC_000011.9:g.86665923G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000132666.1, RCV000333611.1,

[PMID 14507768] Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity.

[PMID 15370539] Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4 mutations (H69Y and C181R).