Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1049254
rs1049254
CYBA
3 0.925 0.160 16 88643420 missense variant A/C;G snv 8.0E-06; 0.65 0.010 1.000 1 2017 2017
dbSNP: rs1049255
rs1049255
CYBA
9 0.776 0.320 16 88643329 3 prime UTR variant C/T snv 0.49 0.48 0.010 1.000 1 2017 2017
dbSNP: rs4673
rs4673
CYBA
32 0.653 0.600 16 88646828 missense variant A/G;T snv 0.70 0.010 1.000 1 2017 2017
dbSNP: rs782047455
rs782047455
CYBB
3 0.925 0.160 X 37793674 missense variant C/T snv 5.5E-06 0.010 1.000 1 2011 2011