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: rs193922129
rs193922129
BTK
1 1.000 0.120 X 101360152 splice acceptor variant T/C snv 0.700 0
dbSNP: rs193922131
rs193922131
BTK
1 1.000 0.120 X 101359348 splice acceptor variant C/T snv 0.700 0
dbSNP: rs193922132
rs193922132
BTK
1 1.000 0.120 X 101358698 splice acceptor variant T/C snv 0.700 0
dbSNP: rs193922133
rs193922133
BTK
1 1.000 0.120 X 101358414 missense variant T/C snv 0.700 0
dbSNP: rs864321660
rs864321660
BTK
1 1.000 0.120 X 101374545 frameshift variant TTCT/- delins 0.700 0
dbSNP: rs864321661
rs864321661
BTK
1 1.000 0.120 X 101375140 splice region variant TT/- del 0.700 0
dbSNP: rs864321662
rs864321662
BTK
1 1.000 0.120 X 101370080 splice acceptor variant C/G snv 0.700 0
dbSNP: rs864321663
rs864321663
BTK
1 1.000 0.120 X 101370081 splice acceptor variant T/C snv 0.700 0
dbSNP: rs864321664
rs864321664
BTK
1 1.000 0.120 X 101370000 frameshift variant T/- delins 0.700 0
dbSNP: rs864321665
rs864321665
BTK
2 0.925 0.240 X 101362203 frameshift variant -/T delins 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
dbSNP: rs128621200
rs128621200
BTK
1 1.000 0.120 X 101356102 missense variant A/G 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: rs128621203
rs128621203
BTK
2 0.925 0.240 X 101354636 missense variant A/G snv 0.700 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: rs128621205
rs128621205
BTK
1 1.000 0.120 X 101353879 missense variant A/G snv 0.800 1.000 20 1994 2000