rs80338743

Orientation

minus

Stabilized

minus

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

Make rs80338743(A;G)

Make rs80338743(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

169290999

Gene

LRP2

is a	snp
is	mentioned by
dbSNP	rs80338743
dbSNP (classic)	rs80338743
ClinGen	rs80338743
ebi	rs80338743
HLI	rs80338743
Exac	rs80338743
Gnomad	rs80338743
Varsome	rs80338743
LitVar	rs80338743
Map	rs80338743
PheGenI	rs80338743
Biobank	rs80338743
1000 genomes	rs80338743
hgdp	rs80338743
ensembl	rs80338743
geneview	rs80338743
scholar	rs80338743
google	rs80338743
pharmgkb	rs80338743
gwascentral	rs80338743
openSNP	rs80338743
23andMe	rs80338743
SNPshot	rs80338743
SNPdbe	rs80338743
MSV3d	rs80338743
GWAS Ctlg	rs80338743

Max Magnitude

0

ClinVar
Risk	rs80338743(G;G)
Alt	rs80338743(G;G)
Reference	Rs80338743(A;A)
Significance	Pathogenic
Disease	Donnai Barrow syndrome
Variation	info
Gene	LRP2
CLNDBN	Donnai Barrow syndrome
Reversed	1
HGVS	NC_000002.11:g.170147509T>C
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020605.1,

[PMID 17632512] Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.