Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1569292774
BTK
1.000 0.120 X 101360617 frameshift variant -/A delins 1
rs1569293253
BTK
1.000 0.120 X 101362172 frameshift variant -/ATGTAGCT delins 1
rs864321665
BTK
0.925 0.240 X 101362203 frameshift variant -/T delins 2
rs886041148
BTK
0.925 0.240 X 101374560 frameshift variant -/T delins 2
rs128621203
BTK
0.925 0.240 X 101354636 missense variant A/G snv 2
rs128620186
BTK
1.000 0.120 X 101375283 start lost A/G snv 1
rs128621198
BTK
1.000 0.120 X 101356910 missense variant A/G snv 1
rs128621200
BTK
1.000 0.120 X 101356102 missense variant A/G snv 1
rs128621205
BTK
1.000 0.120 X 101353879 missense variant A/G snv 1
rs128622212
BTK ; TIMM8A
1.000 0.120 X 101349910 missense variant A/G snv 1
rs144079566
BTK
1.000 0.120 X 101356881 missense variant A/G snv 2.2E-04 2.8E-04 1
rs1569292214
BTK
1.000 0.120 X 101358408 missense variant A/T snv 4
rs128621190
BTK
1.000 0.120 X 101370051 missense variant A/T snv 1
rs128621210
BTK
1.000 0.120 X 101353213 missense variant A/T snv 1
rs1555978777
BTK
1.000 0.120 X 101362171 splice donor variant A/T snv 1
rs193922126
BTK
1.000 0.120 X 101353940 frameshift variant AATTTGGA/- delins 1
rs1569292818
BTK
1.000 0.120 X 101360701 frameshift variant AC/- delins 1
rs1555978412
BTK
1.000 0.120 X 101360121 frameshift variant ATAGTTAC/- delins 1
rs1569292810
BTK
1.000 0.120 X 101360689 frameshift variant C/- delins 1
rs128621191
BTK
1.000 0.120 X 101360626 stop gained C/A snv 1
rs128622211
BTK
1.000 0.120 X 101353196 stop gained C/A snv 1
rs1569291215
BTK
1.000 0.120 X 101354629 splice donor variant C/A snv 1
rs1569293252
BTK
1.000 0.120 X 101362172 splice donor variant C/A snv 1
rs1555977474
BTK
0.925 0.240 X 101353932 stop gained C/A;T snv 2
rs1131691354
BTK
1.000 0.120 X 101386057 splice region variant C/A;T snv 1