rs80358311

Orientation

plus

Stabilized

plus

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

Make rs80358311(A;A)

Make rs80358311(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

68403546

Gene

LRP5

is a	snp
is	mentioned by
dbSNP	rs80358311
dbSNP (classic)	rs80358311
ClinGen	rs80358311
ebi	rs80358311
HLI	rs80358311
Exac	rs80358311
Gnomad	rs80358311
Varsome	rs80358311
LitVar	rs80358311
Map	rs80358311
PheGenI	rs80358311
Biobank	rs80358311
1000 genomes	rs80358311
hgdp	rs80358311
ensembl	rs80358311
geneview	rs80358311
scholar	rs80358311
google	rs80358311
pharmgkb	rs80358311
gwascentral	rs80358311
openSNP	rs80358311
23andMe	rs80358311
SNPshot	rs80358311
SNPdbe	rs80358311
MSV3d	rs80358311
GWAS Ctlg	rs80358311

Max Magnitude

0

ClinVar
Risk	rs80358311(A;A)
Alt	rs80358311(A;A)
Reference	Rs80358311(G;G)
Significance	Pathogenic
Disease	Exudative vitreoretinopathy 4
Variation	info
Gene	LRP5
CLNDBN	Exudative vitreoretinopathy 4
Reversed	0
HGVS	NC_000011.9:g.68171014G>A
CLNSRC
CLNACC

[PMID 16929062] Reduced bone mineral density and hyaloid vasculature remnants in a consanguineous recessive FEVR family with a mutation in LRP5.