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: rs398122947
rs398122947
0.882 0.040 21 43170619 missense variant G/A snv
CUI: C0086543
Disease: Cataract
Cataract
Eye Diseases 0.020 1.000 2 2006 2019
dbSNP: rs121912973
rs121912973
0.882 0.040 21 43172105 missense variant G/A snv
CUI: C0086543
Disease: Cataract
Cataract
Eye Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1227057051
rs1227057051
1.000 0.040 21 43172266 missense variant G/A snv 8.2E-06
CUI: C0086543
Disease: Cataract
Cataract
Eye Diseases 0.010 1.000 1 2017 2017
dbSNP: rs74315441
rs74315441
0.882 0.040 21 43169244 missense variant C/T snv 8.0E-06
CUI: C0086543
Disease: Cataract
Cataract
Eye Diseases 0.010 1.000 1 2008 2008