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rs80358292

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80358292(C;C)
Make rs80358292(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position86951751
GeneFZD4
is asnp
is mentioned by
dbSNPrs80358292
ebirs80358292
HLIrs80358292
Exacrs80358292
Varsomers80358292
Maprs80358292
PheGenIrs80358292
hapmaprs80358292
1000 genomesrs80358292
hgdprs80358292
ensemblrs80358292
gopubmedrs80358292
geneviewrs80358292
scholarrs80358292
googlers80358292
pharmgkbrs80358292
gwascentralrs80358292
openSNPrs80358292
23andMers80358292
23andMe allrs80358292
SNP Nexus

SNPshotrs80358292
SNPdbers80358292
MSV3drs80358292
GWAS Ctlgrs80358292
Max Magnitude0
OMIM604579
Desc
Variant0005
Relatedalso
ClinVar
Risk rs80358292(C;C)
Alt rs80358292(C;C)
Reference rs80358292(G;G)
Significance Pathogenic
Disease Exudative vitreoretinopathy 1
Variation info
Gene PRSS23 FZD4
CLNDBN Exudative vitreoretinopathy 1
Reversed 1
HGVS NC_000011.9:g.86662793C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000005823.2,


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