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: 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: rs1569478551
rs1569478551
CYBB
1 1.000 0.120 X 37780128 splice region variant T/C snv 0.700 0
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: rs1556464554
rs1556464554
CYBB
1 1.000 0.120 X 37782120 frameshift variant TCTG/- delins 0.700 1.000 4 2001 2013
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: 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: 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: rs1556464116
rs1556464116
CYBB
1 1.000 0.120 X 37780113 splice donor variant TTTGTCATTGT/- delins 0.700 1.000 2 1998 2010
dbSNP: rs151344454
rs151344454
CYBB
1 1.000 0.120 X 37810813 missense variant T/C snv 0.800 1.000 25 1989 2017
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
dbSNP: rs137854587
rs137854587
CYBB
1 1.000 0.120 X 37796092 missense variant C/T snv 0.800 1.000 20 1989 2016
dbSNP: rs137854589
rs137854589
CYBB
1 1.000 0.120 X 37799011 missense variant G/A;C snv 0.800 1.000 20 1989 2016
dbSNP: rs137854590
rs137854590
CYBB
1 1.000 0.120 X 37793793 missense variant G/A 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: rs137854593
rs137854593
CYBB
1 1.000 0.120 X 37809604 missense variant A/G 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
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: rs137854596
rs137854596
CYBB
2 1.000 0.120 X 37803890 missense variant C/G snv 0.800 1.000 20 1989 2016
dbSNP: rs151344453
rs151344453
CYBB
1 1.000 0.120 X 37782163 missense variant T/G snv 0.700 1.000 20 1989 2016
dbSNP: rs151344455
rs151344455
CYBB
1 1.000 0.120 X 37782100 missense variant G/C 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