CRYBA4, crystallin beta A4, 1413

N. diseases: 20; N. variants: 7
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1114167433
rs1114167433
0.925 0.200 22 26607934 missense variant G/T snv
CUI: C1861829
Disease: Cataract microcornea syndrome
Cataract microcornea syndrome
Eye Diseases 0.020 1.000 2 2011 2013