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rs80338745

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80338745(G;G)
Make rs80338745(G;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position169280348
GeneLRP2
is asnp
is mentioned by
dbSNPrs80338745
ebirs80338745
HLIrs80338745
Exacrs80338745
Varsomers80338745
Maprs80338745
PheGenIrs80338745
hapmaprs80338745
1000 genomesrs80338745
hgdprs80338745
ensemblrs80338745
gopubmedrs80338745
geneviewrs80338745
scholarrs80338745
googlers80338745
pharmgkbrs80338745
gwascentralrs80338745
openSNPrs80338745
23andMers80338745
23andMe allrs80338745
SNP Nexus

SNPshotrs80338745
SNPdbers80338745
MSV3drs80338745
GWAS Ctlgrs80338745
Max Magnitude0
OMIM600073
Desc
Variant0007
Relatedalso
ClinVar
Risk rs80338745(G;G)
Alt rs80338745(G;G)
Reference rs80338745(T;T)
Significance Pathogenic
Disease Donnai Barrow syndrome
Variation info
Gene LRP2
CLNDBN Donnai Barrow syndrome
Reversed 1
HGVS NC_000002.11:g.170136858A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010064.2,


[PMID 9475100OA-icon.png] Proteinuria in a patient with the diaphragmatic hernia-hypertelorism-myopia-deafness syndrome: further evidence that the facio-oculo-acoustico-renal syndrome represents the same entity.

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