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rs587777601

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587777601(A;A)
Make rs587777601(A;T)
ReferenceGRCh38 38.1/142
Chromosome22
Position25207157
GeneCRYBB3
is asnp
is mentioned by
dbSNPrs587777601
dbSNP (classic)rs587777601
ClinGenrs587777601
ebirs587777601
HLIrs587777601
Exacrs587777601
Gnomadrs587777601
Varsomers587777601
LitVarrs587777601
Maprs587777601
PheGenIrs587777601
Biobankrs587777601
1000 genomesrs587777601
hgdprs587777601
ensemblrs587777601
geneviewrs587777601
scholarrs587777601
googlers587777601
pharmgkbrs587777601
gwascentralrs587777601
openSNPrs587777601
23andMers587777601
SNPshotrs587777601
SNPdbers587777601
MSV3drs587777601
GWAS Ctlgrs587777601
Max Magnitude0
ClinVar
Risk rs587777601(A;A)
Alt rs587777601(A;A)
Reference Rs587777601(T;T)
Significance Pathogenic
Disease Cataract
Variation info
Gene CRYBB3
CLNDBN Cataract, congenital nuclear, autosomal recessive 2
Reversed 0
HGVS NC_000022.10:g.25603124T>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000132765.2,