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rs80338751

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GT;GT) 0 common in clinvar
Make rs80338751(-;-)
Make rs80338751(-;GT)
ReferenceGRCh38 38.1/141
Chromosome2
Position169185863
GeneLRP2
is asnp
is mentioned by
dbSNPrs80338751
ebirs80338751
HLIrs80338751
Exacrs80338751
Varsomers80338751
Maprs80338751
PheGenIrs80338751
hapmaprs80338751
1000 genomesrs80338751
hgdprs80338751
ensemblrs80338751
gopubmedrs80338751
geneviewrs80338751
scholarrs80338751
googlers80338751
pharmgkbrs80338751
gwascentralrs80338751
openSNPrs80338751
23andMers80338751
23andMe allrs80338751
SNP Nexus

SNPshotrs80338751
SNPdbers80338751
MSV3drs80338751
GWAS Ctlgrs80338751
Max Magnitude0
ClinVar
Risk rs80338751(;)
Alt rs80338751(;)
Reference rs80338751(GT;GT)
Significance Pathogenic
Disease Donnai Barrow syndrome
Variation info
Gene LRP2
CLNDBN Donnai Barrow syndrome
Reversed 1
HGVS NC_000002.11:g.170042373_170042374delAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000010059.3,


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