rs80358321

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(ACA;ACA)	0	common in clinvar

Make rs80358321(-;C)

Make rs80358321(C;C)

Reference

GRCh38 38.1/141

Chromosome

11

Position

68438453

Gene

LRP5

is a	snp
is	mentioned by
dbSNP	rs80358321
dbSNP (classic)	rs80358321
ClinGen	rs80358321
ebi	rs80358321
HLI	rs80358321
Exac	rs80358321
Gnomad	rs80358321
Varsome	rs80358321
LitVar	rs80358321
Map	rs80358321
PheGenI	rs80358321
Biobank	rs80358321
1000 genomes	rs80358321
hgdp	rs80358321
ensembl	rs80358321
geneview	rs80358321
scholar	rs80358321
google	rs80358321
pharmgkb	rs80358321
gwascentral	rs80358321
openSNP	rs80358321
23andMe	rs80358321
SNPshot	rs80358321
SNPdbe	rs80358321
MSV3d	rs80358321
GWAS Ctlg	rs80358321

Max Magnitude

0

OMIM	603506
Desc
Variant	0021
Related	also

ClinVar
Risk	rs80358321(C;C)
Alt	rs80358321(C;C)
Reference	Rs80358321(-;-)
Significance	Pathogenic
Disease	Exudative vitreoretinopathy 4
Variation	info
Gene	LRP5
CLNDBN	Exudative vitreoretinopathy 4, autosomal dominant
Reversed	0
HGVS	NC_000011.9:g.68205921dupC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006668.2,

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