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: rs193922448
rs193922448
CYBB
2 1.000 0.120 X 37793716 missense variant G/C snv 0.700 1.000 3 2010 2019
dbSNP: rs151344463
rs151344463
CYBB
1 1.000 0.120 X 37796134 stop gained G/T snv 0.700 1.000 20 1989 2016
dbSNP: rs151344477
rs151344477
CYBB
1 1.000 0.120 X 37809653 missense variant G/T 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: rs193922449
rs193922449
CYBB
1 1.000 0.120 X 37796074 stop gained G/T snv 0.700 0
dbSNP: rs193922446
rs193922446
CYBB
1 1.000 0.120 X 37780092 frameshift variant T/- del 0.700 0
dbSNP: rs151344459
rs151344459
CYBB
1 1.000 0.120 X 37796094 missense variant T/A snv 0.700 1.000 20 1989 2016
dbSNP: rs151344478
rs151344478
CYBB
1 1.000 0.120 X 37810805 missense variant T/A snv 0.700 1.000 20 1989 2016
dbSNP: rs151344495
rs151344495
CYBB
1 1.000 0.120 X 37804004 missense variant T/A snv 0.700 1.000 20 1989 2016
dbSNP: rs151344496
rs151344496
CYBB
1 1.000 0.120 X 37796080 missense variant T/A snv 0.700 1.000 20 1989 2016
dbSNP: rs151344454
rs151344454
CYBB
1 1.000 0.120 X 37810813 missense variant T/C snv 0.800 1.000 25 1989 2017
dbSNP: rs151344457
rs151344457
CYBB
1 1.000 0.120 X 37783523 missense variant T/C snv 0.700 1.000 20 1989 2016
dbSNP: rs151344465
rs151344465
CYBB
1 1.000 0.120 X 37799010 missense variant T/C snv 0.700 1.000 20 1989 2016
dbSNP: rs151344469
rs151344469
CYBB
1 1.000 0.120 X 37803976 missense variant T/C snv 0.700 1.000 20 1989 2016
dbSNP: rs151344475
rs151344475
CYBB
1 1.000 0.120 X 37805118 missense variant T/C snv 0.700 1.000 20 1989 2016
dbSNP: rs151344476
rs151344476
CYBB
1 1.000 0.120 X 37806429 missense variant T/C snv 0.700 1.000 20 1989 2016
dbSNP: rs151344486
rs151344486
CYBB
1 1.000 0.120 X 37805113 missense variant T/C snv 0.700 1.000 20 1989 2016
dbSNP: rs151344487
rs151344487
CYBB
1 1.000 0.120 X 37809651 missense variant T/C snv 0.700 1.000 20 1989 2016
dbSNP: rs151344492
rs151344492
CYBB
1 1.000 0.120 X 37810841 missense variant T/C snv 0.700 1.000 20 1989 2016
dbSNP: rs1569478551
rs1569478551
CYBB
1 1.000 0.120 X 37780128 splice region variant T/C snv 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: rs151344472
rs151344472
CYBB
1 1.000 0.120 X 37805068 missense variant T/G snv 0.700 1.000 20 1989 2016
dbSNP: rs151344490
rs151344490
CYBB
1 1.000 0.120 X 37809619 missense variant T/G 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: rs1556464116
rs1556464116
CYBB
1 1.000 0.120 X 37780113 splice donor variant TTTGTCATTGT/- delins 0.700 1.000 2 1998 2010