rs80338751

Orientation

minus

Stabilized

minus

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

Make rs80338751(-;-)

Make rs80338751(-;GT)

Reference

GRCh38 38.1/141

Chromosome

2

Position

169185863

Gene

LRP2

is a	snp
is	mentioned by
dbSNP	rs80338751
dbSNP (classic)	rs80338751
ClinGen	rs80338751
ebi	rs80338751
HLI	rs80338751
Exac	rs80338751
Gnomad	rs80338751
Varsome	rs80338751
LitVar	rs80338751
Map	rs80338751
PheGenI	rs80338751
Biobank	rs80338751
1000 genomes	rs80338751
hgdp	rs80338751
ensembl	rs80338751
geneview	rs80338751
scholar	rs80338751
google	rs80338751
pharmgkb	rs80338751
gwascentral	rs80338751
openSNP	rs80338751
23andMe	rs80338751
SNPshot	rs80338751
SNPdbe	rs80338751
MSV3d	rs80338751
GWAS Ctlg	rs80338751

Max Magnitude

0

ClinVar
Risk	rs80338751(-;-)
Alt	rs80338751(-;-)
Reference	Rs80338751(GT;GT)
Significance	Pathogenic
Disease	Donnai Barrow syndrome
Variation	info
Gene	LRP2
CLNDBN	Donnai Barrow syndrome
Reversed	1
HGVS	NC_000002.11:g.170042373_170042374delAC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010059.3,

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