CRYBB3, crystallin beta B3, 1417

N. diseases: 10; N. variants: 3
Disease: Congenital cataract ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315490
rs74315490
Entrez Id: 1417
Gene Symbol: CRYBB3
CRYBB3
CUI: C0009691
Disease:
Congenital cataract 		C 0.700 CausalMutation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549 2016
dbSNP: rs864309700
rs864309700
Entrez Id: 1417
Gene Symbol: CRYBB3
CRYBB3
CUI: C0009691
Disease:
Congenital cataract 		C 0.700 GeneticVariation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549 2016