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rs80338752

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338752(C;T)
Make rs80338752(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position169178001
GeneLRP2
is asnp
is mentioned by
dbSNPrs80338752
ebirs80338752
HLIrs80338752
Exacrs80338752
Varsomers80338752
Maprs80338752
PheGenIrs80338752
hapmaprs80338752
1000 genomesrs80338752
hgdprs80338752
ensemblrs80338752
gopubmedrs80338752
geneviewrs80338752
scholarrs80338752
googlers80338752
pharmgkbrs80338752
gwascentralrs80338752
openSNPrs80338752
23andMers80338752
23andMe allrs80338752
SNP Nexus

SNPshotrs80338752
SNPdbers80338752
MSV3drs80338752
GWAS Ctlgrs80338752
Max Magnitude0
OMIM600073
Desc
Variant0006
Relatedalso
ClinVar
Risk rs80338752(A,T;A,T)
Alt rs80338752(A,T;A,T)
Reference rs80338752(C;C)
Significance Pathogenic
Disease Donnai Barrow syndrome
Variation info
Gene LRP2
CLNDBN Donnai Barrow syndrome
Reversed 1
HGVS NC_000002.11:g.170034511G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010063.4,


[PMID 8266995] Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: a newly recognized autosomal recessive disorder?


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