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: 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: rs128621203
rs128621203
BTK
2 0.925 0.240 X 101354636 missense variant A/G snv 0.700 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: rs1555977339
rs1555977339
BTK
1 1.000 0.120 X 101353322 missense variant C/T snv 0.700 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: rs1555978277
rs1555978277
BTK
3 0.882 0.240 X 101359324 missense variant C/T snv 0.700 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: rs128621192
rs128621192
BTK
1 1.000 0.120 X 101360589 stop gained C/T snv 0.700 1.000 5 1994 2016
dbSNP: rs1569292810
rs1569292810
BTK
1 1.000 0.120 X 101360689 frameshift variant C/- delins 0.700 1.000 5 2000 2011
dbSNP: rs1569296295
rs1569296295
BTK
1 1.000 0.120 X 101374536 splice region variant C/T snv 0.700 1.000 4 1998 2005
dbSNP: rs128621207
rs128621207
BTK
1 1.000 0.120 X 101353329 stop gained G/T snv 0.700 1.000 3 1994 2000
dbSNP: rs1555980049
rs1555980049
BTK
2 0.925 0.120 X 101370018 stop gained C/T snv 0.700 1.000 3 1996 2016
dbSNP: rs886041148
rs886041148
BTK
2 0.925 0.240 X 101374560 frameshift variant -/T delins 0.700 1.000 3 1995 2003
dbSNP: rs1569292021
rs1569292021
BTK
1 1.000 0.120 X 101357548 stop gained G/A snv 0.700 1.000 1 2005 2005
dbSNP: rs1131691354
rs1131691354
BTK
1 1.000 0.120 X 101386057 splice region variant C/A;T snv 0.700 0
dbSNP: rs128620186
rs128620186
BTK
1 1.000 0.120 X 101375283 start lost A/G snv 0.700 0
dbSNP: rs128620187
rs128620187
BTK
1 1.000 0.120 X 101375248 stop gained G/A snv 0.700 0
dbSNP: rs128620188
rs128620188
BTK
1 1.000 0.120 X 101375242 stop gained G/A snv 0.700 0
dbSNP: rs128621191
rs128621191
BTK
1 1.000 0.120 X 101360626 stop gained C/A snv 0.700 0
dbSNP: rs128621193
rs128621193
BTK
2 0.925 0.120 X 101360581 stop gained G/A snv 0.700 0
dbSNP: rs128621199
rs128621199
BTK
1 1.000 0.120 X 101356858 stop gained G/A;T snv 1.1E-05 0.700 0
dbSNP: rs128621201
rs128621201
BTK
3 0.882 0.240 X 101356060 stop gained G/A;C snv 0.700 0
dbSNP: rs128621210
rs128621210
BTK
1 1.000 0.120 X 101353213 missense variant A/T snv 0.700 0
dbSNP: rs128622211
rs128622211
BTK
1 1.000 0.120 X 101353196 stop gained C/A snv 0.700 0
dbSNP: rs1555978412
rs1555978412
BTK
1 1.000 0.120 X 101360121 frameshift variant ATAGTTAC/- delins 0.700 0