rs80338746

Orientation

minus

Stabilized

minus

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

Make rs80338746(A;G)

Make rs80338746(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

169247447

Gene

LRP2

is a	snp
is	mentioned by
dbSNP	rs80338746
dbSNP (classic)	rs80338746
ClinGen	rs80338746
ebi	rs80338746
HLI	rs80338746
Exac	rs80338746
Gnomad	rs80338746
Varsome	rs80338746
LitVar	rs80338746
Map	rs80338746
PheGenI	rs80338746
Biobank	rs80338746
1000 genomes	rs80338746
hgdp	rs80338746
ensembl	rs80338746
geneview	rs80338746
scholar	rs80338746
google	rs80338746
pharmgkb	rs80338746
gwascentral	rs80338746
openSNP	rs80338746
23andMe	rs80338746
SNPshot	rs80338746
SNPdbe	rs80338746
MSV3d	rs80338746
GWAS Ctlg	rs80338746

Max Magnitude

0

OMIM	600073
Desc
Variant	0003
Related	also

ClinVar
Risk	rs80338746(G;G)
Alt	rs80338746(G;G)
Reference	Rs80338746(A;A)
Significance	Pathogenic
Disease	Donnai Barrow syndrome
Variation	info
Gene	LRP2
CLNDBN	Donnai Barrow syndrome
Reversed	1
HGVS	NC_000002.11:g.170103957T>C
CLNSRC	OMIM Allelic Variant GeneReviews
CLNACC	SCV000030281.1, SCV000041097.1,

[PMID 12923867] Donnai-Barrow syndrome: four additional patients.

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