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rs80338747

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80338747(C;C)
Make rs80338747(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position169205630
GeneLRP2
is asnp
is mentioned by
dbSNPrs80338747
ebirs80338747
HLIrs80338747
Exacrs80338747
Varsomers80338747
Maprs80338747
PheGenIrs80338747
hapmaprs80338747
1000 genomesrs80338747
hgdprs80338747
ensemblrs80338747
gopubmedrs80338747
geneviewrs80338747
scholarrs80338747
googlers80338747
pharmgkbrs80338747
gwascentralrs80338747
openSNPrs80338747
23andMers80338747
23andMe allrs80338747
SNP Nexus

SNPshotrs80338747
SNPdbers80338747
MSV3drs80338747
GWAS Ctlgrs80338747
Max Magnitude0
OMIM600073
Desc
Variant0001
Relatedalso
ClinVar
Risk rs80338747(C;C)
Alt rs80338747(C;C)
Reference rs80338747(T;T)
Significance Pathogenic
Disease Donnai Barrow syndrome
Variation info
Gene LRP2
CLNDBN Donnai Barrow syndrome
Reversed 1
HGVS NC_000002.11:g.170062140A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000010058.4,


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