MAF, MAF bZIP transcription factor, 4094

N. diseases: 71; N. variants: 28
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: rs121917735
rs121917735
0.882 0.080 16 79599040 missense variant C/G;T snv 4.1E-06
CUI: C1833118
Disease: Cataract, Pulverulent
Cataract, Pulverulent
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2014 2014
dbSNP: rs121917736
rs121917736
0.851 0.200 16 79599013 missense variant T/C snv
CUI: C1833118
Disease: Cataract, Pulverulent
Cataract, Pulverulent
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2014 2014
dbSNP: rs786205221
rs786205221
0.851 0.200 16 79599008 missense variant G/T snv
CUI: C1833118
Disease: Cataract, Pulverulent
Cataract, Pulverulent
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2014 2014