Gene: CRYBA1 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1264025914
rs1264025914
CRYBA1
A 0.700 CausalMutation CLINVAR A novel splice site mutation of CRYBA3/A1 gene associated with congenital cataract in a Chinese family. 28149769

2017
dbSNP: rs1264025914
rs1264025914
CRYBA1
A 0.700 CausalMutation CLINVAR Human βA3/A1-crystallin splicing mutation causes cataracts by activating the unfolded protein response and inducing apoptosis in differentiating lens fiber cells. 26851658

2016
dbSNP: rs1264025914
rs1264025914
CRYBA1
A 0.700 CausalMutation CLINVAR βA3/A1-crystallin: more than a lens protein. 25461968

2015
dbSNP: rs1264025914
rs1264025914
CRYBA1
A 0.700 CausalMutation CLINVAR Congenital cataracts due to a novel 2‑bp deletion in CRYBA1/A3. 24926697

2014
dbSNP: rs1264025914
rs1264025914
CRYBA1
A 0.700 CausalMutation CLINVAR A recurrent mutation in CRYBA1 is associated with an autosomal dominant congenital nuclear cataract disease in a Chinese family. 21686330

2011
dbSNP: rs1264025914
rs1264025914
CRYBA1
A 0.700 CausalMutation CLINVAR Characterization of the G91del CRYBA1/3-crystallin protein: a cause of human inherited cataract. 15016766

2004