rs80358283

Orientation

minus

Stabilized

minus

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

Make rs80358283(-;-)

Make rs80358283(-;TTCACACC)

Reference

GRCh38 38.1/141

Chromosome

11

Position

86954835

Gene	FZD4, LOC100506368

is a	snp
is	mentioned by
dbSNP	rs80358283
dbSNP (classic)	rs80358283
ClinGen	rs80358283
ebi	rs80358283
HLI	rs80358283
Exac	rs80358283
Gnomad	rs80358283
Varsome	rs80358283
LitVar	rs80358283
Map	rs80358283
PheGenI	rs80358283
Biobank	rs80358283
1000 genomes	rs80358283
hgdp	rs80358283
ensembl	rs80358283
geneview	rs80358283
scholar	rs80358283
google	rs80358283
pharmgkb	rs80358283
gwascentral	rs80358283
openSNP	rs80358283
23andMe	rs80358283
SNPshot	rs80358283
SNPdbe	rs80358283
MSV3d	rs80358283
GWAS Ctlg	rs80358283

Max Magnitude

0

ClinVar
Risk
Alt
Reference	Rs80358283(TTCACACC;TTCACACC)
Significance	Pathogenic
Disease	Familial exudative vitreoretinopathy
Variation	info
Gene	FZD4 LOC100506368
CLNDBN	Familial exudative vitreoretinopathy
Reversed	1
HGVS	NC_000011.9:g.86665877_86665884delGGTGTGAAins27
CLNSRC
CLNACC

[PMID 17093393] Identification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy.