CRYAA, crystallin alpha A, 1409

N. diseases: 40; N. variants: 18
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: rs143349894
rs143349894
0.925 0.200 21 43172168 missense variant G/C snv 4.0E-06
CUI: C0266544
Disease: Microcornea
Microcornea
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2011 2011
dbSNP: rs397515625
rs397515625
0.882 0.200 21 43169160 missense variant C/A;T snv 4.0E-06
CUI: C0266544
Disease: Microcornea
Microcornea
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2013 2013