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rs80358283

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TTCACACC;TTCACACC) 0 common in clinvar
Make rs80358283(-;-)
Make rs80358283(-;TTCACACC)
ReferenceGRCh38 38.1/141
Chromosome11
Position86954835
GeneCSF2RB, FZD4
is asnp
is mentioned by
dbSNPrs80358283
ebirs80358283
HLIrs80358283
Exacrs80358283
Varsomers80358283
Maprs80358283
PheGenIrs80358283
hapmaprs80358283
1000 genomesrs80358283
hgdprs80358283
ensemblrs80358283
gopubmedrs80358283
geneviewrs80358283
scholarrs80358283
googlers80358283
pharmgkbrs80358283
gwascentralrs80358283
openSNPrs80358283
23andMers80358283
23andMe allrs80358283
SNP Nexus

SNPshotrs80358283
SNPdbers80358283
MSV3drs80358283
GWAS Ctlgrs80358283
Max Magnitude0
ClinVar
Risk rs80358283(;)
Alt rs80358283(;)
Reference rs80358283(TTCACACC;TTCACACC)
Significance Pathogenic
Disease Familial exudative vitreoretinopathy
Variation info
Gene FZD4 LOC100506368
CLNDBN Familial exudative vitreoretinopathy
Reversed 1
HGVS NC_000011.9:g.86665877_86665884delGGTGTGAAins27
CLNSRC
CLNACC


[PMID 17093393] Identification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy.