GALK1, galactokinase 1, 2584

N. diseases: 34; N. variants: 28
Disease: Bilateral cataracts (disorder) ×
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: rs80084721
rs80084721 		0.925 0.160 17 75763032 missense variant G/A;T snv 1.2E-03
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		Eye Diseases 0.010 1.000 1 2001 2001