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: rs1555977474
rs1555977474
BTK
2 0.925 0.240 X 101353932 stop gained C/A;T snv 0.700 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: 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: rs1569292021
rs1569292021
BTK
1 1.000 0.120 X 101357548 stop gained G/A snv 0.700 1.000 1 2005 2005
dbSNP: rs128620187
rs128620187
BTK
1 1.000 0.120 X 101375248 stop gained G/A snv 0.700 0
dbSNP: rs128620188
rs128620188
BTK
1 1.000 0.120 X 101375242 stop gained G/A snv 0.700 0
dbSNP: rs128621191
rs128621191
BTK
1 1.000 0.120 X 101360626 stop gained C/A snv 0.700 0
dbSNP: rs128621193
rs128621193
BTK
2 0.925 0.120 X 101360581 stop gained G/A snv 0.700 0
dbSNP: rs128621199
rs128621199
BTK
1 1.000 0.120 X 101356858 stop gained G/A;T snv 1.1E-05 0.700 0
dbSNP: rs128621201
rs128621201
BTK
3 0.882 0.240 X 101356060 stop gained G/A;C snv 0.700 0
dbSNP: rs128622211
rs128622211
BTK
1 1.000 0.120 X 101353196 stop gained C/A snv 0.700 0
dbSNP: rs1555980796
rs1555980796
BTK
1 1.000 0.120 X 101374612 stop gained G/T snv 0.700 0
dbSNP: rs193922124
rs193922124
BTK
1 1.000 0.120 X 101356163 stop gained G/A;T snv 5.5E-06 0.700 0
dbSNP: rs128620185
rs128620185
BTK
4 0.882 0.240 X 101375202 missense variant C/T snv 0.810 1.000 21 1994 2000
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: rs128621194
rs128621194
BTK
2 0.925 0.240 X 101359325 missense variant G/A 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