rs80358318

Orientation

plus

Stabilized

plus

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

Make rs80358318(C;C)

Make rs80358318(C;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

68426052

Gene

LRP5

is a	snp
is	mentioned by
dbSNP	rs80358318
dbSNP (classic)	rs80358318
ClinGen	rs80358318
ebi	rs80358318
HLI	rs80358318
Exac	rs80358318
Gnomad	rs80358318
Varsome	rs80358318
LitVar	rs80358318
Map	rs80358318
PheGenI	rs80358318
Biobank	rs80358318
1000 genomes	rs80358318
hgdp	rs80358318
ensembl	rs80358318
geneview	rs80358318
scholar	rs80358318
google	rs80358318
pharmgkb	rs80358318
gwascentral	rs80358318
openSNP	rs80358318
23andMe	rs80358318
SNPshot	rs80358318
SNPdbe	rs80358318
MSV3d	rs80358318
GWAS Ctlg	rs80358318

Max Magnitude

0

ClinVar
Risk	rs80358318(C;C)
Alt	rs80358318(C;C)
Reference	Rs80358318(T;T)
Significance	Pathogenic
Disease	Exudative vitreoretinopathy 4
Variation	info
Gene	LRP5
CLNDBN	Exudative vitreoretinopathy 4
Reversed	0
HGVS	NC_000011.9:g.68193520T>C
CLNSRC
CLNACC

[PMID 11719191] LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.