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rs80338750

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs80338750(-;-)
Make rs80338750(-;AG)
ReferenceGRCh38 38.1/141
Chromosome2
Position169185989
GeneLRP2
is asnp
is mentioned by
dbSNPrs80338750
ebirs80338750
HLIrs80338750
Exacrs80338750
Varsomers80338750
Maprs80338750
PheGenIrs80338750
hapmaprs80338750
1000 genomesrs80338750
hgdprs80338750
ensemblrs80338750
gopubmedrs80338750
geneviewrs80338750
scholarrs80338750
googlers80338750
pharmgkbrs80338750
gwascentralrs80338750
openSNPrs80338750
23andMers80338750
23andMe allrs80338750
SNP Nexus

SNPshotrs80338750
SNPdbers80338750
MSV3drs80338750
GWAS Ctlgrs80338750
Max Magnitude0
ClinVar
Risk rs80338750(;)
Alt rs80338750(;)
Reference rs80338750(AG;AG)
Significance Pathogenic
Disease Donnai Barrow syndrome
Variation info
Gene LRP2
CLNDBN Donnai Barrow syndrome
Reversed 1
HGVS NC_000002.11:g.170042499_170042500delCT
CLNSRC ClinVar GeneReviews
CLNACC RCV000020606.1,


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