Gene: BTK ×
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: rs128621198
rs128621198
BTK
1 1.000 0.120 X 101356910 missense variant A/G snv 0.800 1.000 20 1994 2000
dbSNP: rs1569292021
rs1569292021
BTK
1 1.000 0.120 X 101357548 stop gained G/A snv 0.700 1.000 1 2005 2005
dbSNP: rs28935478
rs28935478
BTK
1 1.000 0.120 X 101358330 missense variant T/C snv 0.800 1.000 20 1994 2000
dbSNP: rs1569292214
rs1569292214
BTK
4 1.000 0.120 X 101358408 missense variant A/T snv 0.700 0
dbSNP: rs128621196
rs128621196
BTK
1 1.000 0.120 X 101358411 missense variant T/G snv 0.800 1.000 20 1994 2000
dbSNP: rs193922133
rs193922133
BTK
1 1.000 0.120 X 101358414 missense variant T/C snv 0.700 0
dbSNP: rs128621195
rs128621195
BTK
2 1.000 0.120 X 101358672 missense variant T/C snv 0.800 1.000 20 1994 2000
dbSNP: rs193922132
rs193922132
BTK
1 1.000 0.120 X 101358698 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1555978277
rs1555978277
BTK
3 0.882 0.240 X 101359324 missense variant C/T snv 0.700 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: rs193922131
rs193922131
BTK
1 1.000 0.120 X 101359348 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1569292649
rs1569292649
BTK
1 1.000 0.120 X 101360087 splice donor variant C/T snv 0.700 0
dbSNP: rs1555978412
rs1555978412
BTK
1 1.000 0.120 X 101360121 frameshift variant ATAGTTAC/- delins 0.700 0
dbSNP: rs193922129
rs193922129
BTK
1 1.000 0.120 X 101360152 splice acceptor variant T/C snv 0.700 0
dbSNP: rs128621193
rs128621193
BTK
2 0.925 0.120 X 101360581 stop gained G/A snv 0.700 0
dbSNP: rs128621192
rs128621192
BTK
1 1.000 0.120 X 101360589 stop gained C/T snv 0.700 1.000 5 1994 2016
dbSNP: rs1569292774
rs1569292774
BTK
1 1.000 0.120 X 101360617 frameshift variant -/A delins 0.700 0
dbSNP: rs128621191
rs128621191
BTK
1 1.000 0.120 X 101360626 stop gained C/A snv 0.700 0
dbSNP: rs1569292810
rs1569292810
BTK
1 1.000 0.120 X 101360689 frameshift variant C/- delins 0.700 1.000 5 2000 2011
dbSNP: rs1569292813
rs1569292813
BTK
1 1.000 0.120 X 101360691 frameshift variant T/- delins 0.700 0
dbSNP: rs1569292818
rs1569292818
BTK
1 1.000 0.120 X 101360701 frameshift variant AC/- delins 0.700 0
dbSNP: rs1555978777
rs1555978777
BTK
1 1.000 0.120 X 101362171 splice donor variant A/T snv 0.700 0
dbSNP: rs1569293252
rs1569293252
BTK
1 1.000 0.120 X 101362172 splice donor variant C/A snv 0.700 0
dbSNP: rs1569293253
rs1569293253
BTK
1 1.000 0.120 X 101362172 frameshift variant -/ATGTAGCT delins 0.700 0
dbSNP: rs864321665
rs864321665
BTK
2 0.925 0.240 X 101362203 frameshift variant -/T delins 0.700 0