rs80338747

Orientation

minus

Stabilized

minus

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

Make rs80338747(C;C)

Make rs80338747(C;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

169205630

Gene

LRP2

is a	snp
is	mentioned by
dbSNP	rs80338747
dbSNP (classic)	rs80338747
ClinGen	rs80338747
ebi	rs80338747
HLI	rs80338747
Exac	rs80338747
Gnomad	rs80338747
Varsome	rs80338747
LitVar	rs80338747
Map	rs80338747
PheGenI	rs80338747
Biobank	rs80338747
1000 genomes	rs80338747
hgdp	rs80338747
ensembl	rs80338747
geneview	rs80338747
scholar	rs80338747
google	rs80338747
pharmgkb	rs80338747
gwascentral	rs80338747
openSNP	rs80338747
23andMe	rs80338747
SNPshot	rs80338747
SNPdbe	rs80338747
MSV3d	rs80338747
GWAS Ctlg	rs80338747

Max Magnitude

0

OMIM	600073
Desc
Variant	0001
Related	also

ClinVar
Risk	rs80338747(C;C)
Alt	rs80338747(C;C)
Reference	Rs80338747(T;T)
Significance	Pathogenic
Disease	Donnai Barrow syndrome not provided
Variation	info
Gene	LRP2
CLNDBN	Donnai Barrow syndrome not provided
Reversed	1
HGVS	NC_000002.11:g.170062140A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010058.5, RCV000412752.1,

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