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: 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: rs1569292810
rs1569292810
BTK
1 1.000 0.120 X 101360689 frameshift variant C/- delins 0.700 1.000 5 2000 2011
dbSNP: rs886041148
rs886041148
BTK
2 0.925 0.240 X 101374560 frameshift variant -/T delins 0.700 1.000 3 1995 2003
dbSNP: rs1555978412
rs1555978412
BTK
1 1.000 0.120 X 101360121 frameshift variant ATAGTTAC/- delins 0.700 0
dbSNP: rs1569292774
rs1569292774
BTK
1 1.000 0.120 X 101360617 frameshift variant -/A delins 0.700 0
dbSNP: rs1569292813
rs1569292813
BTK
1 1.000 0.120 X 101360691 frameshift variant T/- delins 0.700 0
dbSNP: rs1569292818
rs1569292818
BTK
1 1.000 0.120 X 101360701 frameshift variant AC/- delins 0.700 0
dbSNP: rs1569293253
rs1569293253
BTK
1 1.000 0.120 X 101362172 frameshift variant -/ATGTAGCT delins 0.700 0
dbSNP: rs193922126
rs193922126
BTK
1 1.000 0.120 X 101353940 frameshift variant AATTTGGA/- delins 0.700 0
dbSNP: rs193922128
rs193922128
BTK
2 0.925 0.240 X 101362606 frameshift variant TCTG/- delins 0.700 0
dbSNP: rs864321660
rs864321660
BTK
1 1.000 0.120 X 101374545 frameshift variant TTCT/- delins 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: rs864321661
rs864321661
BTK
1 1.000 0.120 X 101375140 splice region variant TT/- del 0.700 0