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rs80338753

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TTTG;TTTG) 0 common in clinvar
Make rs80338753(-;-)
Make rs80338753(-;TTTG)
ReferenceGRCh38 38.1/141
Chromosome2
Position169169727
GeneLRP2
is asnp
is mentioned by
dbSNPrs80338753
ebirs80338753
HLIrs80338753
Exacrs80338753
Varsomers80338753
Maprs80338753
PheGenIrs80338753
hapmaprs80338753
1000 genomesrs80338753
hgdprs80338753
ensemblrs80338753
gopubmedrs80338753
geneviewrs80338753
scholarrs80338753
googlers80338753
pharmgkbrs80338753
gwascentralrs80338753
openSNPrs80338753
23andMers80338753
23andMe allrs80338753
SNP Nexus

SNPshotrs80338753
SNPdbers80338753
MSV3drs80338753
GWAS Ctlgrs80338753
Max Magnitude0
ClinVar
Risk rs80338753(;)
Alt rs80338753(;)
Reference rs80338753(TTTG;TTTG)
Significance Pathogenic
Disease Donnai Barrow syndrome
Variation info
Gene LRP2
CLNDBN Donnai Barrow syndrome
Reversed 1
HGVS NC_000002.11:g.170026237_170026240delCAAA
CLNSRC ClinVar GeneReviews
CLNACC RCV000020603.1,


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