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: rs193922446
rs193922446
CYBB
1 1.000 0.120 X 37780092 frameshift variant T/- del 0.700 0
dbSNP: rs1556464116
rs1556464116
CYBB
1 1.000 0.120 X 37780113 splice donor variant TTTGTCATTGT/- delins 0.700 1.000 2 1998 2010
dbSNP: rs1569478551
rs1569478551
CYBB
1 1.000 0.120 X 37780128 splice region variant T/C snv 0.700 0
dbSNP: rs151344455
rs151344455
CYBB
1 1.000 0.120 X 37782100 missense variant G/C snv 0.700 1.000 20 1989 2016
dbSNP: rs1556464554
rs1556464554
CYBB
1 1.000 0.120 X 37782120 frameshift variant TCTG/- delins 0.700 1.000 4 2001 2013
dbSNP: rs387906486
rs387906486
CYBB
1 1.000 0.120 X 37782132 stop gained CCG/GGT mnv 0.700 0
dbSNP: rs151344453
rs151344453
CYBB
1 1.000 0.120 X 37782163 missense variant T/G snv 0.700 1.000 20 1989 2016
dbSNP: rs151344479
rs151344479
CYBB
1 1.000 0.120 X 37783509 missense variant G/T snv 0.700 1.000 20 1989 2016
dbSNP: rs151344456
rs151344456
CYBB
2 1.000 0.120 X 37783510 missense variant G/C snv 0.700 1.000 20 1989 2016
dbSNP: rs151344480
rs151344480
CYBB
1 1.000 0.120 X 37783512 missense variant C/A snv 0.700 1.000 20 1989 2016
dbSNP: rs151344481
rs151344481
CYBB
1 1.000 0.120 X 37783518 missense variant C/A;T snv 0.700 1.000 20 1989 2016
dbSNP: rs151344457
rs151344457
CYBB
1 1.000 0.120 X 37783523 missense variant T/C snv 0.700 1.000 20 1989 2016
dbSNP: rs151344488
rs151344488
CYBB
1 1.000 0.120 X 37783525 missense variant C/G snv 0.700 1.000 20 1989 2016
dbSNP: rs137854588
rs137854588
CYBB
1 1.000 0.120 X 37783565 stop gained C/T snv 0.700 1.000 4 1991 2015
dbSNP: rs387906485
rs387906485
CYBB
1 1.000 0.120 X 37783600 splice region variant G/A;T snv 0.700 1.000 4 1998 2012
dbSNP: rs137854594
rs137854594
CYBB
1 1.000 0.120 X 37792023 missense variant C/T snv 0.800 1.000 20 1989 2016
dbSNP: rs137854591
rs137854591
CYBB
1 1.000 0.120 X 37792024 missense variant A/G snv 0.800 1.000 20 1989 2016
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
dbSNP: rs151344458
rs151344458
CYBB
1 1.000 0.120 X 37793683 missense variant A/G snv 0.700 1.000 20 1989 2016
dbSNP: rs193922448
rs193922448
CYBB
2 1.000 0.120 X 37793716 missense variant G/C snv 0.700 1.000 3 2010 2019
dbSNP: rs137854590
rs137854590
CYBB
1 1.000 0.120 X 37793793 missense variant G/A snv 0.800 1.000 20 1989 2016
dbSNP: rs151344491
rs151344491
CYBB
1 1.000 0.120 X 37796002 missense variant G/A snv 0.700 1.000 20 1989 2016
dbSNP: rs151344493
rs151344493
CYBB
1 1.000 0.120 X 37796045 missense variant C/T snv 0.700 1.000 20 1989 2016
dbSNP: rs193922449
rs193922449
CYBB
1 1.000 0.120 X 37796074 stop gained G/T snv 0.700 0
dbSNP: rs151344496
rs151344496
CYBB
1 1.000 0.120 X 37796080 missense variant T/A snv 0.700 1.000 20 1989 2016