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rs74315489

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315489(C;T)
Make rs74315489(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position25231617
GeneCRYBB2
is asnp
is mentioned by
dbSNPrs74315489
dbSNP (classic)rs74315489
ClinGenrs74315489
ebirs74315489
HLIrs74315489
Exacrs74315489
Gnomadrs74315489
Varsomers74315489
LitVarrs74315489
Maprs74315489
PheGenIrs74315489
Biobankrs74315489
1000 genomesrs74315489
hgdprs74315489
ensemblrs74315489
geneviewrs74315489
scholarrs74315489
googlers74315489
pharmgkbrs74315489
gwascentralrs74315489
openSNPrs74315489
23andMers74315489
SNPshotrs74315489
SNPdbers74315489
MSV3drs74315489
GWAS Ctlgrs74315489
Max Magnitude0
OMIM123620
Desc
Variant0001
Relatedalso
ClinVar
Risk rs74315489(T;T)
Alt rs74315489(T;T)
Reference Rs74315489(C;C)
Significance Pathogenic
Disease Cataract 3 Congenital cataract
Variation info
Gene CRYBB2
CLNDBN Cataract 3, multiple types Congenital cataract
Reversed 0
HGVS NC_000022.10:g.25627584C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018458.29, RCV000490780.1,