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: rs128620189
rs128620189
BTK
1 1.000 0.120 X 101375188 missense variant T/G snv 0.810 1.000 21 1994 2000
dbSNP: rs128621190
rs128621190
BTK
1 1.000 0.120 X 101370051 missense variant A/T snv 0.810 1.000 21 1994 2000
dbSNP: rs104894770
rs104894770
BTK
1 1.000 0.120 X 101353935 missense variant C/G snv 0.800 1.000 20 1994 2000
dbSNP: rs128620183
rs128620183
BTK
2 0.925 0.120 X 101354687 missense variant C/T snv 0.800 1.000 20 1994 2000
dbSNP: rs128620184
rs128620184
BTK
1 1.000 0.120 X 101356845 missense variant T/C snv 0.800 1.000 20 1994 2000
dbSNP: rs128621195
rs128621195
BTK
2 1.000 0.120 X 101358672 missense variant T/C snv 0.800 1.000 20 1994 2000
dbSNP: rs128621196
rs128621196
BTK
1 1.000 0.120 X 101358411 missense variant T/G snv 0.800 1.000 20 1994 2000
dbSNP: rs128621198
rs128621198
BTK
1 1.000 0.120 X 101356910 missense variant A/G snv 0.800 1.000 20 1994 2000
dbSNP: rs128621200
rs128621200
BTK
1 1.000 0.120 X 101356102 missense variant A/G snv 0.800 1.000 20 1994 2000
dbSNP: rs128621205
rs128621205
BTK
1 1.000 0.120 X 101353879 missense variant A/G snv 0.800 1.000 20 1994 2000
dbSNP: rs128621206
rs128621206
BTK
1 1.000 0.120 X 101353336 missense variant T/C snv 0.800 1.000 20 1994 2000
dbSNP: rs128621208
rs128621208
BTK
1 1.000 0.120 X 101353282 missense variant G/T snv 0.800 1.000 20 1994 2000
dbSNP: rs128621209
rs128621209
BTK
1 1.000 0.120 X 101353264 missense variant C/T snv 0.800 1.000 20 1994 2000
dbSNP: rs128622212
rs128622212
BTK ; TIMM8A
1 1.000 0.120 X 101349910 missense variant A/G snv 0.800 1.000 20 1994 2000
dbSNP: rs144079566
rs144079566
BTK
1 1.000 0.120 X 101356881 missense variant A/G snv 2.2E-04 2.8E-04 0.700 1.000 20 1994 2000
dbSNP: rs1555977339
rs1555977339
BTK
1 1.000 0.120 X 101353322 missense variant C/T snv 0.700 1.000 20 1994 2000
dbSNP: rs28935478
rs28935478
BTK
1 1.000 0.120 X 101358330 missense variant T/C snv 0.800 1.000 20 1994 2000
dbSNP: rs41310709
rs41310709
BTK
1 1.000 0.120 X 101356112 stop gained G/A;T snv 0.800 1.000 20 1994 2000
dbSNP: rs128621192
rs128621192
BTK
1 1.000 0.120 X 101360589 stop gained C/T snv 0.700 1.000 5 1994 2016
dbSNP: rs1569292810
rs1569292810
BTK
1 1.000 0.120 X 101360689 frameshift variant C/- delins 0.700 1.000 5 2000 2011
dbSNP: rs1569296295
rs1569296295
BTK
1 1.000 0.120 X 101374536 splice region variant C/T snv 0.700 1.000 4 1998 2005
dbSNP: rs128621207
rs128621207
BTK
1 1.000 0.120 X 101353329 stop gained G/T snv 0.700 1.000 3 1994 2000
dbSNP: rs1555980049
rs1555980049
BTK
2 0.925 0.120 X 101370018 stop gained C/T snv 0.700 1.000 3 1996 2016
dbSNP: rs112226207
rs112226207
BLZF1
1 1.000 0.120 1 169376645 missense variant A/G snv 5.1E-04 2.1E-03 0.010 1.000 1 1996 1996
dbSNP: rs1569292021
rs1569292021
BTK
1 1.000 0.120 X 101357548 stop gained G/A snv 0.700 1.000 1 2005 2005