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: rs128622212
rs128622212
BTK ; TIMM8A
1 1.000 0.120 X 101349910 missense variant A/G snv 0.800 1.000 20 1994 2000
dbSNP: rs128622211
rs128622211
BTK
1 1.000 0.120 X 101353196 stop gained C/A snv 0.700 0
dbSNP: rs128621210
rs128621210
BTK
1 1.000 0.120 X 101353213 missense variant A/T snv 0.700 0
dbSNP: rs128621209
rs128621209
BTK
1 1.000 0.120 X 101353264 missense variant C/T 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: rs1555977339
rs1555977339
BTK
1 1.000 0.120 X 101353322 missense variant C/T snv 0.700 1.000 20 1994 2000
dbSNP: rs128621207
rs128621207
BTK
1 1.000 0.120 X 101353329 stop gained G/T snv 0.700 1.000 3 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: rs128621205
rs128621205
BTK
1 1.000 0.120 X 101353879 missense variant A/G snv 0.800 1.000 20 1994 2000
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: rs104894770
rs104894770
BTK
1 1.000 0.120 X 101353935 missense variant C/G snv 0.800 1.000 20 1994 2000
dbSNP: rs128621204
rs128621204
BTK
3 0.882 0.240 X 101353936 missense variant G/A snv 0.800 1.000 20 1994 2000
dbSNP: rs193922126
rs193922126
BTK
1 1.000 0.120 X 101353940 frameshift variant AATTTGGA/- delins 0.700 0
dbSNP: rs1569291215
rs1569291215
BTK
1 1.000 0.120 X 101354629 splice donor variant C/A snv 0.700 0
dbSNP: rs128621203
rs128621203
BTK
2 0.925 0.240 X 101354636 missense variant A/G snv 0.700 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: rs128621202
rs128621202
BTK
2 0.925 0.240 X 101356059 missense variant C/T snv 0.800 1.000 20 1994 2000
dbSNP: rs128621201
rs128621201
BTK
3 0.882 0.240 X 101356060 stop gained G/A;C snv 0.700 0
dbSNP: rs128621200
rs128621200
BTK
1 1.000 0.120 X 101356102 missense variant A/G snv 0.800 1.000 20 1994 2000
dbSNP: rs193922125
rs193922125
BTK
1 1.000 0.120 X 101356107 missense variant T/A snv 0.700 0
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: rs193922124
rs193922124
BTK
1 1.000 0.120 X 101356163 stop gained G/A;T snv 5.5E-06 0.700 0
dbSNP: rs128620184
rs128620184
BTK
1 1.000 0.120 X 101356845 missense variant T/C snv 0.800 1.000 20 1994 2000
dbSNP: rs128621199
rs128621199
BTK
1 1.000 0.120 X 101356858 stop gained G/A;T snv 1.1E-05 0.700 0
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