rs28939709

Orientation

plus

Stabilized

plus

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

Make rs28939709(A;A)

Make rs28939709(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

68436987

Gene

LRP5

is a	snp
is	mentioned by
dbSNP	rs28939709
dbSNP (classic)	rs28939709
ClinGen	rs28939709
ebi	rs28939709
HLI	rs28939709
Exac	rs28939709
Gnomad	rs28939709
Varsome	rs28939709
LitVar	rs28939709
Map	rs28939709
PheGenI	rs28939709
Biobank	rs28939709
1000 genomes	rs28939709
hgdp	rs28939709
ensembl	rs28939709
geneview	rs28939709
scholar	rs28939709
google	rs28939709
pharmgkb	rs28939709
gwascentral	rs28939709
openSNP	rs28939709
23andMe	rs28939709
SNPshot	rs28939709
SNPdbe	rs28939709
MSV3d	rs28939709
GWAS Ctlg	rs28939709

Max Magnitude

0

OMIM	603506
Desc	EXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL RECESSIVE
Variant	0024
Related	also

ClinVar
Risk	rs28939709(A;A)
Alt	rs28939709(A;A)
Reference	Rs28939709(G;G)
Significance	Pathogenic
Disease	Exudative vitreoretinopathy 4
Variation	info
Gene	LRP5
CLNDBN	Exudative vitreoretinopathy 4, autosomal recessive
Reversed	0
HGVS	NC_000011.9:g.68204455G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006671.2,

[PMID 15346351] Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.