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rs587776717

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587776717(C;T)
Make rs587776717(T;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position169256237
GeneLRP2
is asnp
is mentioned by
dbSNPrs587776717
ebirs587776717
HLIrs587776717
Exacrs587776717
Varsomers587776717
Maprs587776717
PheGenIrs587776717
hapmaprs587776717
1000 genomesrs587776717
hgdprs587776717
ensemblrs587776717
gopubmedrs587776717
geneviewrs587776717
scholarrs587776717
googlers587776717
pharmgkbrs587776717
gwascentralrs587776717
openSNPrs587776717
23andMers587776717
23andMe allrs587776717
SNP Nexus

SNPshotrs587776717
SNPdbers587776717
MSV3drs587776717
GWAS Ctlgrs587776717
Max Magnitude0
ClinVar
Risk rs587776717(C,T;C,T)
Alt rs587776717(C,T;C,T)
Reference rs587776717(G;G)
Significance Pathogenic
Disease Donnai Barrow syndrome
Variation info
Gene LRP2
CLNDBN Donnai Barrow syndrome
Reversed 1
HGVS NC_000002.11:g.170112747C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010060.2,