Have questions? Visit https://www.reddit.com/r/SNPedia

rs80358282

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80358282(C;T)
Make rs80358282(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position86954881
GeneCSF2RB, FZD4
is asnp
is mentioned by
dbSNPrs80358282
ebirs80358282
HLIrs80358282
Exacrs80358282
Varsomers80358282
Maprs80358282
PheGenIrs80358282
hapmaprs80358282
1000 genomesrs80358282
hgdprs80358282
ensemblrs80358282
gopubmedrs80358282
geneviewrs80358282
scholarrs80358282
googlers80358282
pharmgkbrs80358282
gwascentralrs80358282
openSNPrs80358282
23andMers80358282
23andMe allrs80358282
SNP Nexus

SNPshotrs80358282
SNPdbers80358282
MSV3drs80358282
GWAS Ctlgrs80358282
GMAF0.007346
Max Magnitude0
ClinVar
Risk rs80358282(T;T)
Alt rs80358282(T;T)
Reference rs80358282(C;C)
Significance Probable-non-pathogenic
Disease not provided
Variation info
Gene FZD4 LOC100506368
CLNDBN not provided
Reversed 1
HGVS NC_000011.9:g.86665923G>A
CLNSRC ClinVar
CLNACC RCV000132666.1,


[PMID 14507768OA-icon.png] Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity.


[PMID 15370539] Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4 mutations (H69Y and C181R).