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rs80358307

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GGGGGAAGAG;GGGGGAAGAG) 0 common in clinvar
(GGGGGGAAGA;GGGGGGAAGA) 0 common in clinvar
Make rs80358307(-;-)
Make rs80358307(-;GGGGGAAGAG)
ReferenceGRCh38 38.1/141
Chromosome11
Position68363863
GeneLRP5
is asnp
is mentioned by
dbSNPrs80358307
dbSNP (old)rs80358307
ClinGenrs80358307
ebirs80358307
HLIrs80358307
Exacrs80358307
Gnomadrs80358307
Varsomers80358307
Maprs80358307
PheGenIrs80358307
Biobankrs80358307
1000 genomesrs80358307
hgdprs80358307
ensemblrs80358307
gopubmedrs80358307
geneviewrs80358307
scholarrs80358307
googlers80358307
pharmgkbrs80358307
gwascentralrs80358307
openSNPrs80358307
23andMers80358307
23andMe allrs80358307
SNP Nexus

SNPshotrs80358307
SNPdbers80358307
MSV3drs80358307
GWAS Ctlgrs80358307
Max Magnitude0
OMIM603506
Desc
Variant0028
Relatedalso
ClinVar
Risk rs80358307(-;-)
Alt rs80358307(-;-)
Reference Rs80358307(GGGGGGAAGA;GGGGGGAAGA)
Significance Pathogenic
Disease Exudative vitreoretinopathy 4
Variation info
Gene LRP5
CLNDBN Exudative vitreoretinopathy 4, autosomal recessive
Reversed 0
HGVS NC_000011.9:g.68131331_68131340delGGGGGAAGAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000006675.3,


[PMID 15981244] Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes.