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rs80338744

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338744(C;T)
Make rs80338744(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position169282951
GeneLRP2
is asnp
is mentioned by
dbSNPrs80338744
ebirs80338744
HLIrs80338744
Exacrs80338744
Varsomers80338744
Maprs80338744
PheGenIrs80338744
hapmaprs80338744
1000 genomesrs80338744
hgdprs80338744
ensemblrs80338744
gopubmedrs80338744
geneviewrs80338744
scholarrs80338744
googlers80338744
pharmgkbrs80338744
gwascentralrs80338744
openSNPrs80338744
23andMers80338744
23andMe allrs80338744
SNP Nexus

SNPshotrs80338744
SNPdbers80338744
MSV3drs80338744
GWAS Ctlgrs80338744
Max Magnitude0
OMIM600073
Desc
Variant0008
Relatedalso
ClinVar
Risk rs80338744(T;T)
Alt rs80338744(T;T)
Reference rs80338744(C;C)
Significance Pathogenic
Disease Donnai Barrow syndrome
Variation info
Gene LRP2
CLNDBN Donnai Barrow syndrome
Reversed 1
HGVS NC_000002.11:g.170139461G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010065.3,


[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.