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rs864309700

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs864309700(C;C)
Make rs864309700(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position25207210
GeneCRYBB3
is asnp
is mentioned by
dbSNPrs864309700
dbSNP (classic)rs864309700
ClinGenrs864309700
ebirs864309700
HLIrs864309700
Exacrs864309700
Gnomadrs864309700
Varsomers864309700
LitVarrs864309700
Maprs864309700
PheGenIrs864309700
Biobankrs864309700
1000 genomesrs864309700
hgdprs864309700
ensemblrs864309700
geneviewrs864309700
scholarrs864309700
googlers864309700
pharmgkbrs864309700
gwascentralrs864309700
openSNPrs864309700
23andMers864309700
SNPshotrs864309700
SNPdbers864309700
MSV3drs864309700
GWAS Ctlgrs864309700
Max Magnitude0
ClinVar
Risk rs864309700(C;C)
Alt rs864309700(C;C)
Reference Rs864309700(T;T)
Significance Probable-Pathogenic
Disease Congenital cataract
Variation info
Gene CRYBB3
CLNDBN Congenital cataract
Reversed 0
HGVS NC_000022.10:g.25603177T>C
CLNSRC
CLNACC RCV000203319.1,