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: rs1569478551
rs1569478551
CYBB
1 1.000 0.120 X 37780128 splice region variant T/C snv 0.700 0
dbSNP: rs1569479943
rs1569479943
CYBB
1 1.000 0.120 X 37803990 stop gained G/A snv 0.700 0
dbSNP: rs1569480333
rs1569480333
CYBB
1 1.000 0.120 X 37809571 frameshift variant AT/- del 0.700 0
dbSNP: rs193922445
rs193922445
CYBB
1 1.000 0.120 X 37804117 frameshift variant -/G delins 0.700 0
dbSNP: rs193922446
rs193922446
CYBB
1 1.000 0.120 X 37780092 frameshift variant T/- del 0.700 0
dbSNP: rs193922449
rs193922449
CYBB
1 1.000 0.120 X 37796074 stop gained G/T snv 0.700 0
dbSNP: rs387906486
rs387906486
CYBB
1 1.000 0.120 X 37782132 stop gained CCG/GGT mnv 0.700 0
dbSNP: rs1556469197
rs1556469197
CYBB
1 1.000 0.120 X 37799061 stop gained C/T snv 0.700 1.000 1 1996 1996
dbSNP: rs1569479953
rs1569479953
CYBB
1 1.000 0.120 X 37804064 missense variant C/T snv 0.700 1.000 1 2000 2000
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
dbSNP: rs1556464116
rs1556464116
CYBB
1 1.000 0.120 X 37780113 splice donor variant TTTGTCATTGT/- delins 0.700 1.000 2 1998 2010
dbSNP: rs1556473119
rs1556473119
CYBB
1 1.000 0.120 X 37810906 missense variant G/A snv 0.700 1.000 2 2000 2010
dbSNP: rs1569480031
rs1569480031
CYBB
1 1.000 0.120 X 37805087 frameshift variant -/G delins 0.700 1.000 2 1998 2003
dbSNP: rs1556471620
rs1556471620
CYBB
1 1.000 0.120 X 37806386 splice acceptor variant G/A snv 0.700 1.000 3 1998 2010
dbSNP: rs193922448
rs193922448
CYBB
2 1.000 0.120 X 37793716 missense variant G/C snv 0.700 1.000 3 2010 2019
dbSNP: rs886041194
rs886041194
CYBB
1 1.000 0.120 X 37799016 frameshift variant -/A delins 0.700 1.000 3 1996 2017
dbSNP: rs137854588
rs137854588
CYBB
1 1.000 0.120 X 37783565 stop gained C/T snv 0.700 1.000 4 1991 2015
dbSNP: rs1556464554
rs1556464554
CYBB
1 1.000 0.120 X 37782120 frameshift variant TCTG/- delins 0.700 1.000 4 2001 2013
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: rs137854592
rs137854592
CYBB
1 1.000 0.120 X 37798956 stop gained C/T snv 5.8E-06 9.5E-06 0.700 1.000 7 1992 2018
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: rs137854586
rs137854586
CYBB
1 1.000 0.120 X 37805020 missense variant G/A;C snv 0.800 1.000 20 1989 2016