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: rs128620185
rs128620185
BTK
4 0.882 0.240 X 101375202 missense variant C/T snv 0.810 1.000 21 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: rs1555978277
rs1555978277
BTK
3 0.882 0.240 X 101359324 missense variant C/T snv 0.700 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: rs128620183
rs128620183
BTK
2 0.925 0.120 X 101354687 missense variant C/T 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: 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: rs1555977474
rs1555977474
BTK
2 0.925 0.240 X 101353932 stop gained C/A;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: 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: rs128621193
rs128621193
BTK
2 0.925 0.120 X 101360581 stop gained G/A snv 0.700 0
dbSNP: rs193922128
rs193922128
BTK
2 0.925 0.240 X 101362606 frameshift variant TCTG/- delins 0.700 0
dbSNP: rs864321665
rs864321665
BTK
2 0.925 0.240 X 101362203 frameshift variant -/T 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: 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: 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: 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: rs128621205
rs128621205
BTK
1 1.000 0.120 X 101353879 missense variant A/G 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