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rs373273223

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs373273223(C;T)
Make rs373273223(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position46705063
GeneZNF408
is asnp
is mentioned by
dbSNPrs373273223
dbSNP (classic)rs373273223
ClinGenrs373273223
ebirs373273223
HLIrs373273223
Exacrs373273223
Gnomadrs373273223
Varsomers373273223
LitVarrs373273223
Maprs373273223
PheGenIrs373273223
Biobankrs373273223
1000 genomesrs373273223
hgdprs373273223
ensemblrs373273223
geneviewrs373273223
scholarrs373273223
googlers373273223
pharmgkbrs373273223
gwascentralrs373273223
openSNPrs373273223
23andMers373273223
SNPshotrs373273223
SNPdbers373273223
MSV3drs373273223
GWAS Ctlgrs373273223
Max Magnitude0
ClinVar
Risk rs373273223(T;T)
Alt rs373273223(T;T)
Reference Rs373273223(C;C)
Significance Pathogenic
Disease Exudative vitreoretinopathy 6
Variation info
Gene ZNF408
CLNDBN Exudative vitreoretinopathy 6
Reversed 0
HGVS NC_000011.9:g.46726613C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000186509.2,