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: 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: rs193922128
rs193922128
BTK
2 0.925 0.240 X 101362606 frameshift variant TCTG/- delins 0.700 0
dbSNP: rs128620189
rs128620189
BTK
1 1.000 0.120 X 101375188 missense variant T/G snv 0.810 1.000 21 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: rs128620184
rs128620184
BTK
1 1.000 0.120 X 101356845 missense variant T/C 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: rs128621206
rs128621206
BTK
1 1.000 0.120 X 101353336 missense variant T/C snv 0.800 1.000 20 1994 2000
dbSNP: rs1555980875
rs1555980875
BTK
2 0.925 0.240 X 101375166 missense variant T/C snv 0.700 1.000 20 1994 2000
dbSNP: rs28935478
rs28935478
BTK
1 1.000 0.120 X 101358330 missense variant T/C snv 0.800 1.000 20 1994 2000
dbSNP: rs193922129
rs193922129
BTK
1 1.000 0.120 X 101360152 splice acceptor variant T/C 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: rs864321663
rs864321663
BTK
1 1.000 0.120 X 101370081 splice acceptor variant T/C snv 0.700 0
dbSNP: rs193922125
rs193922125
BTK
1 1.000 0.120 X 101356107 missense variant T/A snv 0.700 0
dbSNP: rs1569292813
rs1569292813
BTK
1 1.000 0.120 X 101360691 frameshift variant T/- delins 0.700 0
dbSNP: rs864321664
rs864321664
BTK
1 1.000 0.120 X 101370000 frameshift variant T/- delins 0.700 0
dbSNP: rs128621208
rs128621208
BTK
1 1.000 0.120 X 101353282 missense variant G/T snv 0.800 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: rs1555980796
rs1555980796
BTK
1 1.000 0.120 X 101374612 stop gained G/T 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: rs128621199
rs128621199
BTK
1 1.000 0.120 X 101356858 stop gained G/A;T snv 1.1E-05 0.700 0
dbSNP: rs193922124
rs193922124
BTK
1 1.000 0.120 X 101356163 stop gained G/A;T snv 5.5E-06 0.700 0
dbSNP: rs128621201
rs128621201
BTK
3 0.882 0.240 X 101356060 stop gained G/A;C snv 0.700 0
dbSNP: rs128621194
rs128621194
BTK
2 0.925 0.240 X 101359325 missense variant G/A snv 0.800 1.000 20 1994 2000