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rs80338754

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(CAT;CAT) 0 common in clinvar
Make rs80338754(-;-)
Make rs80338754(-;C)
Make rs80338754(C;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position169140514
GeneLRP2
is asnp
is mentioned by
dbSNPrs80338754
ebirs80338754
HLIrs80338754
Exacrs80338754
Varsomers80338754
Maprs80338754
PheGenIrs80338754
hapmaprs80338754
1000 genomesrs80338754
hgdprs80338754
ensemblrs80338754
gopubmedrs80338754
geneviewrs80338754
scholarrs80338754
googlers80338754
pharmgkbrs80338754
gwascentralrs80338754
openSNPrs80338754
23andMers80338754
23andMe allrs80338754
SNP Nexus

SNPshotrs80338754
SNPdbers80338754
MSV3drs80338754
GWAS Ctlgrs80338754
Max Magnitude0
ClinVar
Risk rs80338754(C;C)
Alt rs80338754(C;C)
Reference rs80338754(CAT;CAT)
Significance Pathogenic
Disease Donnai Barrow syndrome
Variation info
Gene LRP2
CLNDBN Donnai Barrow syndrome
Reversed 1
HGVS NC_000002.11:g.169997025dupG
CLNSRC ClinVar GeneReviews
CLNACC RCV000020604.1,


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