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rs1057519379

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057519379(-;C)
Make rs1057519379(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position41233777
GeneCTNNB1
is asnp
is mentioned by
dbSNPrs1057519379
dbSNP (classic)rs1057519379
ClinGenrs1057519379
ebirs1057519379
HLIrs1057519379
Exacrs1057519379
Gnomadrs1057519379
Varsomers1057519379
LitVarrs1057519379
Maprs1057519379
PheGenIrs1057519379
Biobankrs1057519379
1000 genomesrs1057519379
hgdprs1057519379
ensemblrs1057519379
geneviewrs1057519379
scholarrs1057519379
googlers1057519379
pharmgkbrs1057519379
gwascentralrs1057519379
openSNPrs1057519379
23andMers1057519379
23andMe allrs1057519379
SNPshotrs1057519379
SNPdbers1057519379
MSV3drs1057519379
GWAS Ctlgrs1057519379
Max Magnitude0
ClinVar
Risk rs1057519379(C;C)
Alt rs1057519379(C;C)
Reference Rs1057519379(-;-)
Significance Pathogenic
Disease Exudative vitreoretinopathy 1
Variation info
Gene CTNNB1
CLNDBN Exudative vitreoretinopathy 1
Reversed 0
HGVS NC_000003.11:g.41275268_41275269insC
CLNSRC
CLNACC RCV000416683.1,