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rs80338748

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338748(A;A)
Make rs80338748(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position169201627
GeneLRP2
is asnp
is mentioned by
dbSNPrs80338748
ebirs80338748
HLIrs80338748
Exacrs80338748
Varsomers80338748
Maprs80338748
PheGenIrs80338748
hapmaprs80338748
1000 genomesrs80338748
hgdprs80338748
ensemblrs80338748
gopubmedrs80338748
geneviewrs80338748
scholarrs80338748
googlers80338748
pharmgkbrs80338748
gwascentralrs80338748
openSNPrs80338748
23andMers80338748
23andMe allrs80338748
SNP Nexus

SNPshotrs80338748
SNPdbers80338748
MSV3drs80338748
GWAS Ctlgrs80338748
Max Magnitude0
OMIM600073
Desc
Variant0005
Relatedalso
ClinVar
Risk rs80338748(A;A)
Alt rs80338748(A;A)
Reference rs80338748(G;G)
Significance Pathogenic
Disease Donnai Barrow syndrome
Variation info
Gene LRP2
CLNDBN Donnai Barrow syndrome
Reversed 1
HGVS NC_000002.11:g.170058137C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010062.2,


[PMID 8266995] Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: a newly recognized autosomal recessive disorder?

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