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: rs28941476
rs28941476
CYBA
1 1.000 0.120 16 88648103 missense variant C/T snv 1.2E-05 0.800 1.000 11 1990 2013
dbSNP: rs104894510
rs104894510
CYBA
1 1.000 0.120 16 88646761 missense variant T/C snv 0.800 1.000 10 1990 2013
dbSNP: rs104894513
rs104894513
CYBA
1 1.000 0.120 16 88646773 missense variant C/T snv 4.0E-06 0.800 1.000 10 1990 2013
dbSNP: rs104894514
rs104894514
CYBA
1 1.000 0.120 16 88646131 missense variant G/A;T snv 1.9E-05; 4.3E-05 0.800 1.000 10 1990 2013
dbSNP: rs104894515
rs104894515
CYBA
2 1.000 0.120 16 88643474 missense variant G/T snv 0.800 1.000 10 1990 2013
dbSNP: rs179363892
rs179363892
CYBA
1 1.000 0.120 16 88646774 missense variant G/A;C snv 4.0E-05; 1.2E-05 0.800 1.000 10 1990 2013
dbSNP: rs179363890
rs179363890
CYBA
1 1.000 0.120 16 88647149 missense variant A/G snv 4.1E-06 7.0E-06 0.700 1.000 10 1990 2013
dbSNP: rs179363891
rs179363891
CYBA
1 1.000 0.120 16 88648099 missense variant C/A;T snv 0.700 1.000 10 1990 2013
dbSNP: rs179363893
rs179363893
CYBA
1 1.000 0.120 16 88647146 missense variant T/A;C snv 0.700 1.000 10 1990 2013
dbSNP: rs179363894
rs179363894
CYBA
1 1.000 0.120 16 88643570 missense variant G/A snv 7.7E-06 2.8E-05 0.700 1.000 10 1990 2013
dbSNP: rs104894511
rs104894511
CYBA
1 1.000 0.120 16 88651007 stop gained G/A snv 0.700 0
dbSNP: rs119103269
rs119103269
CYBA
1 1.000 0.120 16 88643568 missense variant C/A;T snv 0.700 0
dbSNP: rs1439134665
rs1439134665
CYBA
1 1.000 0.120 16 88646796 frameshift variant G/- delins 0.700 0
dbSNP: rs1567608853
rs1567608853
CYBA
6 0.925 0.160 16 88646212 non coding transcript exon variant G/C snv 0.700 0
dbSNP: rs1567609091
rs1567609091
CYBA
1 1.000 0.120 16 88646754 splice donor variant C/T snv 0.700 0