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: rs1569292774
rs1569292774
BTK
1 1.000 0.120 X 101360617 frameshift variant -/A delins 0.700 0
dbSNP: rs1569293253
rs1569293253
BTK
1 1.000 0.120 X 101362172 frameshift variant -/ATGTAGCT delins 0.700 0
dbSNP: rs886041148
rs886041148
BTK
2 0.925 0.240 X 101374560 frameshift variant -/T delins 0.700 1.000 3 1995 2003
dbSNP: rs864321665
rs864321665
BTK
2 0.925 0.240 X 101362203 frameshift variant -/T delins 0.700 0
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: rs128621203
rs128621203
BTK
2 0.925 0.240 X 101354636 missense variant A/G snv 0.700 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: 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: 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: rs128620186
rs128620186
BTK
1 1.000 0.120 X 101375283 start lost A/G snv 0.700 0
dbSNP: rs128621190
rs128621190
BTK
1 1.000 0.120 X 101370051 missense variant A/T snv 0.810 1.000 21 1994 2000
dbSNP: rs128621210
rs128621210
BTK
1 1.000 0.120 X 101353213 missense variant A/T snv 0.700 0
dbSNP: rs1555978777
rs1555978777
BTK
1 1.000 0.120 X 101362171 splice donor variant A/T snv 0.700 0
dbSNP: rs1569292214
rs1569292214
BTK
4 1.000 0.120 X 101358408 missense variant A/T snv 0.700 0
dbSNP: rs193922126
rs193922126
BTK
1 1.000 0.120 X 101353940 frameshift variant AATTTGGA/- delins 0.700 0
dbSNP: rs1569292818
rs1569292818
BTK
1 1.000 0.120 X 101360701 frameshift variant AC/- delins 0.700 0
dbSNP: rs1555978412
rs1555978412
BTK
1 1.000 0.120 X 101360121 frameshift variant ATAGTTAC/- delins 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: rs128621191
rs128621191
BTK
1 1.000 0.120 X 101360626 stop gained C/A snv 0.700 0
dbSNP: rs128622211
rs128622211
BTK
1 1.000 0.120 X 101353196 stop gained C/A snv 0.700 0
dbSNP: rs1569291215
rs1569291215
BTK
1 1.000 0.120 X 101354629 splice donor variant C/A 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: rs1555977474
rs1555977474
BTK
2 0.925 0.240 X 101353932 stop gained C/A;T snv 0.700 1.000 20 1994 2000