rs80358306

Orientation

plus

Stabilized

plus

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

Make rs80358306(C;T)

Make rs80358306(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

68357679

Gene

LRP5

is a	snp
is	mentioned by
dbSNP	rs80358306
dbSNP (classic)	rs80358306
ClinGen	rs80358306
ebi	rs80358306
HLI	rs80358306
Exac	rs80358306
Gnomad	rs80358306
Varsome	rs80358306
LitVar	rs80358306
Map	rs80358306
PheGenI	rs80358306
Biobank	rs80358306
1000 genomes	rs80358306
hgdp	rs80358306
ensembl	rs80358306
geneview	rs80358306
scholar	rs80358306
google	rs80358306
pharmgkb	rs80358306
gwascentral	rs80358306
openSNP	rs80358306
23andMe	rs80358306
SNPshot	rs80358306
SNPdbe	rs80358306
MSV3d	rs80358306
GWAS Ctlg	rs80358306

Max Magnitude

0

ClinVar
Risk	rs80358306(T;T)
Alt	rs80358306(T;T)
Reference	Rs80358306(C;C)
Significance	Pathogenic
Disease	Exudative vitreoretinopathy 4
Variation	info
Gene	LRP5
CLNDBN	Exudative vitreoretinopathy 4
Reversed	0
HGVS	NC_000011.9:g.68125147C>T
CLNSRC
CLNACC

[PMID 15024691] Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.