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rs80338746

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80338746(A;G)
Make rs80338746(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position169247447
GeneLRP2
is asnp
is mentioned by
dbSNPrs80338746
ebirs80338746
HLIrs80338746
Exacrs80338746
Varsomers80338746
Maprs80338746
PheGenIrs80338746
hapmaprs80338746
1000 genomesrs80338746
hgdprs80338746
ensemblrs80338746
gopubmedrs80338746
geneviewrs80338746
scholarrs80338746
googlers80338746
pharmgkbrs80338746
gwascentralrs80338746
openSNPrs80338746
23andMers80338746
23andMe allrs80338746
SNP Nexus

SNPshotrs80338746
SNPdbers80338746
MSV3drs80338746
GWAS Ctlgrs80338746
Max Magnitude0
OMIM600073
Desc
Variant0003
Relatedalso
ClinVar
Risk rs80338746(G;G)
Alt rs80338746(G;G)
Reference rs80338746(A;A)
Significance Pathogenic
Disease Donnai Barrow syndrome
Variation info
Gene LRP2
CLNDBN Donnai Barrow syndrome
Reversed 1
HGVS NC_000002.11:g.170103957T>C
CLNSRC OMIM Allelic Variant GeneReviews
CLNACC SCV000030281.1, SCV000041097.1,


[PMID 12923867] Donnai-Barrow syndrome: four additional patients.

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