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rs80338749

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(ATTT;ATTT) 0 common in clinvar
(TTAT;TTAT) 0 common in clinvar
(TTTA;TTTA) 0 common in complete genomics
Make rs80338749(-;-)
Make rs80338749(-;TTTA)
ReferenceGRCh38 38.1/141
Chromosome2
Position169198845
GeneLRP2
is asnp
is mentioned by
dbSNPrs80338749
dbSNP (old)rs80338749
ClinGenrs80338749
ebirs80338749
HLIrs80338749
Exacrs80338749
Gnomadrs80338749
Varsomers80338749
Maprs80338749
PheGenIrs80338749
Biobankrs80338749
1000 genomesrs80338749
hgdprs80338749
ensemblrs80338749
gopubmedrs80338749
geneviewrs80338749
scholarrs80338749
googlers80338749
pharmgkbrs80338749
gwascentralrs80338749
openSNPrs80338749
23andMers80338749
23andMe allrs80338749
SNP Nexus

SNPshotrs80338749
SNPdbers80338749
MSV3drs80338749
GWAS Ctlgrs80338749
Max Magnitude0
ClinVar
Risk rs80338749(-;-)
Alt rs80338749(-;-)
Reference Rs80338749(ATTT;ATTT)
Significance Pathogenic
Disease Donnai Barrow syndrome
Variation info
Gene LRP2
CLNDBN Donnai Barrow syndrome
Reversed 1
HGVS NC_000002.11:g.170055355_170055358delTAAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000010061.5,


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