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rs864309683

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs864309683(C;C)
Make rs864309683(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position25231710
GeneCRYBB2
is asnp
is mentioned by
dbSNPrs864309683
dbSNP (classic)rs864309683
ClinGenrs864309683
ebirs864309683
HLIrs864309683
Exacrs864309683
Gnomadrs864309683
Varsomers864309683
LitVarrs864309683
Maprs864309683
PheGenIrs864309683
Biobankrs864309683
1000 genomesrs864309683
hgdprs864309683
ensemblrs864309683
geneviewrs864309683
scholarrs864309683
googlers864309683
pharmgkbrs864309683
gwascentralrs864309683
openSNPrs864309683
23andMers864309683
SNPshotrs864309683
SNPdbers864309683
MSV3drs864309683
GWAS Ctlgrs864309683
Max Magnitude0
ClinVar
Risk rs864309683(C;C)
Alt rs864309683(C;C)
Reference Rs864309683(T;T)
Significance Probable-Pathogenic
Disease Congenital cataract
Variation info
Gene CRYBB2
CLNDBN Congenital cataract
Reversed 0
HGVS NC_000022.10:g.25627677T>C
CLNSRC
CLNACC RCV000203398.1,