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: rs886041194
rs886041194
CYBB
1 1.000 0.120 X 37799016 frameshift variant -/A delins 0.700 1.000 3 1996 2017
dbSNP: rs1569480031
rs1569480031
CYBB
1 1.000 0.120 X 37805087 frameshift variant -/G delins 0.700 1.000 2 1998 2003
dbSNP: rs193922445
rs193922445
CYBB
1 1.000 0.120 X 37804117 frameshift variant -/G delins 0.700 0
dbSNP: rs151344489
rs151344489
CYBB
1 1.000 0.120 X 37803898 missense variant A/C;G snv 5.5E-06 0.700 1.000 20 1989 2016
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: rs137854591
rs137854591
CYBB
1 1.000 0.120 X 37792024 missense variant A/G snv 0.800 1.000 20 1989 2016
dbSNP: rs137854593
rs137854593
CYBB
1 1.000 0.120 X 37809604 missense variant A/G snv 0.800 1.000 20 1989 2016
dbSNP: rs151344458
rs151344458
CYBB
1 1.000 0.120 X 37793683 missense variant A/G snv 0.700 1.000 20 1989 2016
dbSNP: rs151344462
rs151344462
CYBB
1 1.000 0.120 X 37796132 missense variant A/G snv 0.700 1.000 20 1989 2016
dbSNP: rs151344482
rs151344482
CYBB
1 1.000 0.120 X 37796093 missense variant A/G snv 0.700 1.000 20 1989 2016
dbSNP: rs151344468
rs151344468
CYBB
1 1.000 0.120 X 37803952 missense variant A/G;T snv 5.5E-06 0.700 1.000 20 1989 2016
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: rs151344494
rs151344494
CYBB
1 1.000 0.120 X 37796141 missense variant A/T snv 0.700 1.000 20 1989 2016
dbSNP: rs1569480333
rs1569480333
CYBB
1 1.000 0.120 X 37809571 frameshift variant AT/- del 0.700 0
dbSNP: rs151344470
rs151344470
CYBB
1 1.000 0.120 X 37803995 missense variant C/A 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: rs137854585
rs137854585
CYBB
1 1.000 0.120 X 37805098 missense variant C/A;T snv 0.800 1.000 20 1989 2016
dbSNP: rs137854595
rs137854595
CYBB
2 1.000 0.120 X 37803886 missense variant C/A;T snv 0.800 1.000 20 1989 2016
dbSNP: rs151344460
rs151344460
CYBB
1 1.000 0.120 X 37796131 missense variant C/A;T 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: rs137854596
rs137854596
CYBB
2 1.000 0.120 X 37803890 missense variant C/G snv 0.800 1.000 20 1989 2016
dbSNP: rs151344483
rs151344483
CYBB
1 1.000 0.120 X 37796138 missense variant C/G 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: rs137854587
rs137854587
CYBB
1 1.000 0.120 X 37796092 missense variant C/T snv 0.800 1.000 20 1989 2016
dbSNP: rs137854594
rs137854594
CYBB
1 1.000 0.120 X 37792023 missense variant C/T snv 0.800 1.000 20 1989 2016