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: rs1057518965
rs1057518965
ATM
4 0.923 0.179 11 108244812 frameshift variant TA/T in-del 0.700 1 2015 2015
dbSNP: rs121913529
rs121913529
70 0.559 0.393 12 25245350 missense variant C/A,G,T snp 4.0E-06 0.020 1.000 2 2016 2017
dbSNP: rs104894230
rs104894230
42 0.615 0.464 11 534288 missense variant C/A,G,T snp 0.010 1.000 1 2004 2004
dbSNP: rs121434592
rs121434592
56 0.582 0.500 14 104780214 missense variant C/T snp 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs121912438
rs121912438
47 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs121913237
rs121913237
37 0.626 0.429 1 114716126 missense variant C/A,G,T snp 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs128620185
rs128620185
BTK
4 0.878 0.107 X 101375202 missense variant C/T snp 0.010 1.000 1 1997 1997
dbSNP: rs128621195
rs128621195
BTK
3 0.923 0.107 X 101358672 missense variant T/C snp 0.010 1.000 1 1997 1997
dbSNP: rs201137953
rs201137953
1 2 162039019 missense variant T/C snp 4.0E-06 0.010 < 0.001 1 2000 2000
dbSNP: rs61732239
rs61732239
ADA
2 1.000 0.107 20 44625622 missense variant C/G,T snp 1.0E-03 3.3E-03 0.010 < 0.001 1 2000 2000