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: rs142869513
rs142869513
0.925 0.200 22 26623327 stop gained C/G;T snv 4.0E-06; 2.4E-05
CUI: C0266544
Disease: Microcornea
Microcornea
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2011 2011