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rs74315490

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74315490(C;C)
Make rs74315490(C;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position25207069
GeneCRYBB3
is asnp
is mentioned by
dbSNPrs74315490
ebirs74315490
HLIrs74315490
Exacrs74315490
Varsomers74315490
Maprs74315490
PheGenIrs74315490
hapmaprs74315490
1000 genomesrs74315490
hgdprs74315490
ensemblrs74315490
gopubmedrs74315490
geneviewrs74315490
scholarrs74315490
googlers74315490
pharmgkbrs74315490
gwascentralrs74315490
openSNPrs74315490
23andMers74315490
23andMe allrs74315490
SNP Nexus

SNPshotrs74315490
SNPdbers74315490
MSV3drs74315490
GWAS Ctlgrs74315490
Max Magnitude0
OMIM123630
Desc
Variant0001
Relatedalso
ClinVar
Risk rs74315490(A,C;A,C)
Alt rs74315490(A,C;A,C)
Reference rs74315490(G;G)
Significance Pathogenic
Disease Cataract Congenital cataract
Variation info
Gene CRYBB3
CLNDBN Cataract, congenital nuclear, autosomal recessive 2 Congenital cataract
Reversed 0
HGVS NC_000022.10:g.25603036G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000018457.25, RCV000203352.1,