CRYBA1, crystallin beta A1, 1411

N. diseases: 20; N. variants: 6
Disease: Cataract, Congenital Zonular, with Sutural Opacities ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs775038545
rs775038545
Entrez Id: 1411
Gene Symbol: CRYBA1
CRYBA1
CUI: C1833229
Disease:
Cataract, Congenital Zonular, with Sutural Opacities 		A 0.700 GeneticVariation CLINVAR A deletion mutation in the betaA1/A3 crystallin gene ( CRYBA1/A3) is associated with autosomal dominant congenital nuclear cataract in a Chinese family. 14598164 2004
dbSNP: rs775038545
rs775038545
Entrez Id: 1411
Gene Symbol: CRYBA1
CRYBA1
CUI: C1833229
Disease:
Cataract, Congenital Zonular, with Sutural Opacities 		A 0.700 GeneticVariation CLINVAR Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-crystallin gene. 9788845 1998