Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1250875000
rs1250875000
CRYAA2 ; LOC102724701 ; LOC102724843
0.010 GeneticVariation BEFREE To our knowledge this is the first knock-in mouse model for a crystallin mutation causing hereditary human cataract and establishes that alphaA-R49C promotes protein insolubility and cell death in vivo. 18056999

2008