rs80358322

Orientation

plus

Stabilized

plus

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

Make rs80358322(G;G)

Make rs80358322(G;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

68439918

Gene

LRP5

is a	snp
is	mentioned by
dbSNP	rs80358322
dbSNP (classic)	rs80358322
ClinGen	rs80358322
ebi	rs80358322
HLI	rs80358322
Exac	rs80358322
Gnomad	rs80358322
Varsome	rs80358322
LitVar	rs80358322
Map	rs80358322
PheGenI	rs80358322
Biobank	rs80358322
1000 genomes	rs80358322
hgdp	rs80358322
ensembl	rs80358322
geneview	rs80358322
scholar	rs80358322
google	rs80358322
pharmgkb	rs80358322
gwascentral	rs80358322
openSNP	rs80358322
23andMe	rs80358322
SNPshot	rs80358322
SNPdbe	rs80358322
MSV3d	rs80358322
GWAS Ctlg	rs80358322

Max Magnitude

0

OMIM	603506
Desc
Variant	0020
Related	also

ClinVar
Risk	rs80358322(G;G)
Alt	rs80358322(G;G)
Reference	Rs80358322(T;T)
Significance	Pathogenic
Disease	Exudative vitreoretinopathy 4 not provided
Variation	info
Gene	LRP5
CLNDBN	Exudative vitreoretinopathy 4, autosomal dominant not provided
Reversed	0
HGVS	NC_000011.9:g.68207386T>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006667.2, RCV000489366.1,

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