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: 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: 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: rs1556473119
rs1556473119
CYBB
1 1.000 0.120 X 37810906 missense variant G/A snv 0.700 1.000 2 2000 2010
dbSNP: rs151344492
rs151344492
CYBB
1 1.000 0.120 X 37810841 missense variant T/C 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: rs151344478
rs151344478
CYBB
1 1.000 0.120 X 37810805 missense variant T/A 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: rs151344487
rs151344487
CYBB
1 1.000 0.120 X 37809651 missense variant T/C 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: rs137854593
rs137854593
CYBB
1 1.000 0.120 X 37809604 missense variant A/G snv 0.800 1.000 20 1989 2016
dbSNP: rs1569480333
rs1569480333
CYBB
1 1.000 0.120 X 37809571 frameshift variant AT/- del 0.700 0
dbSNP: rs151344476
rs151344476
CYBB
1 1.000 0.120 X 37806429 missense variant T/C snv 0.700 1.000 20 1989 2016
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: rs151344475
rs151344475
CYBB
1 1.000 0.120 X 37805118 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: rs137854585
rs137854585
CYBB
1 1.000 0.120 X 37805098 missense variant C/A;T snv 0.800 1.000 20 1989 2016
dbSNP: rs1569480031
rs1569480031
CYBB
1 1.000 0.120 X 37805087 frameshift variant -/G delins 0.700 1.000 2 1998 2003
dbSNP: rs151344474
rs151344474
CYBB
1 1.000 0.120 X 37805077 missense variant G/A;C snv 5.5E-06 0.700 1.000 20 1989 2016
dbSNP: rs151344473
rs151344473
CYBB
1 1.000 0.120 X 37805076 missense variant G/A 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: rs137854586
rs137854586
CYBB
1 1.000 0.120 X 37805020 missense variant G/A;C snv 0.800 1.000 20 1989 2016
dbSNP: rs193922445
rs193922445
CYBB
1 1.000 0.120 X 37804117 frameshift variant -/G delins 0.700 0
dbSNP: rs1569479953
rs1569479953
CYBB
1 1.000 0.120 X 37804064 missense variant C/T snv 0.700 1.000 1 2000 2000
dbSNP: rs151344471
rs151344471
CYBB
1 1.000 0.120 X 37804046 missense variant G/A;C snv 5.5E-06 0.700 1.000 20 1989 2016