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rs80338743

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80338743(A;G)
Make rs80338743(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position169290999
GeneLRP2
is asnp
is mentioned by
dbSNPrs80338743
ebirs80338743
HLIrs80338743
Exacrs80338743
Varsomers80338743
Maprs80338743
PheGenIrs80338743
hapmaprs80338743
1000 genomesrs80338743
hgdprs80338743
ensemblrs80338743
gopubmedrs80338743
geneviewrs80338743
scholarrs80338743
googlers80338743
pharmgkbrs80338743
gwascentralrs80338743
openSNPrs80338743
23andMers80338743
23andMe allrs80338743
SNP Nexus

SNPshotrs80338743
SNPdbers80338743
MSV3drs80338743
GWAS Ctlgrs80338743
Max Magnitude0
ClinVar
Risk rs80338743(G;G)
Alt rs80338743(G;G)
Reference rs80338743(A;A)
Significance Pathogenic
Disease Donnai Barrow syndrome
Variation info
Gene LRP2
CLNDBN Donnai Barrow syndrome
Reversed 1
HGVS NC_000002.11:g.170147509T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000020605.1,


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