rs80338754

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(CAT;CAT)	0	common in clinvar
(D;D)	0	common genotype

Make rs80338754(-;C)

Make rs80338754(C;C)

Reference

GRCh38 38.1/141

Chromosome

2

Position

169140514

Gene

LRP2

is a	snp
is	mentioned by
dbSNP	rs80338754
dbSNP (classic)	rs80338754
ClinGen	rs80338754
ebi	rs80338754
HLI	rs80338754
Exac	rs80338754
Gnomad	rs80338754
Varsome	rs80338754
LitVar	rs80338754
Map	rs80338754
PheGenI	rs80338754
Biobank	rs80338754
1000 genomes	rs80338754
hgdp	rs80338754
ensembl	rs80338754
geneview	rs80338754
scholar	rs80338754
google	rs80338754
pharmgkb	rs80338754
gwascentral	rs80338754
openSNP	rs80338754
23andMe	rs80338754
SNPshot	rs80338754
SNPdbe	rs80338754
MSV3d	rs80338754
GWAS Ctlg	rs80338754

Max Magnitude

0

ClinVar
Risk	rs80338754(C;C)
Alt	rs80338754(C;C)
Reference	Rs80338754(-;-)
Significance	Pathogenic
Disease	Donnai Barrow syndrome
Variation	info
Gene	LRP2
CLNDBN	Donnai Barrow syndrome
Reversed	1
HGVS	NC_000002.11:g.169997025dupG
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020604.1,

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