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
5 0.882 0.320 11 108244812 frameshift variant A/- delins 0.700 0
dbSNP: rs1336343565
rs1336343565
1 11 36592848 missense variant G/T snv 7.0E-06 0.700 0
dbSNP: rs1555119899
rs1555119899
7 0.925 0.240 11 108326149 missense variant G/C snv 0.700 0
dbSNP: rs1555257073
rs1555257073
25 0.827 0.120 13 28672407 frameshift variant AT/- delins 0.700 0
dbSNP: rs1555908409
rs1555908409
7 0.851 0.160 22 37232842 missense variant C/T snv 0.700 0
dbSNP: rs3218716
rs3218716
17 0.716 0.280 14 23425316 missense variant C/A;G;T snv 4.0E-06; 2.4E-05 0.700 0
dbSNP: rs74315329
rs74315329
15 0.732 0.240 1 171636338 stop gained G/A snv 1.1E-03 8.7E-04 0.700 0
dbSNP: rs128620185
rs128620185
BTK
4 0.882 0.240 X 101375202 missense variant C/T snv 0.010 1.000 1 1997 1997
dbSNP: rs128621195
rs128621195
BTK
2 1.000 0.120 X 101358672 missense variant T/C snv 0.010 1.000 1 1997 1997
dbSNP: rs201137953
rs201137953
1 2 162039019 missense variant T/A;C snv 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs61732239
rs61732239
ADA
2 1.000 0.120 20 44625622 missense variant C/G;T snv 1.0E-03 0.010 1.000 1 2000 2000
dbSNP: rs1444669684
rs1444669684
36 0.658 0.480 9 21994285 missense variant C/A;T snv 0.010 1.000 1 2005 2005
dbSNP: rs1131691021
rs1131691021
21 0.716 0.120 17 7675097 missense variant A/C;G snv 0.020 1.000 2 2005 2010
dbSNP: rs762846821
rs762846821
57 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 0.020 1.000 2 2005 2010
dbSNP: rs121913237
rs121913237
50 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1482518887
rs1482518887
8 0.790 0.040 21 34887018 missense variant C/T snv 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs746540053
rs746540053
2 1.000 0.040 1 207911034 missense variant C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs778036161
rs778036161
9 0.776 0.080 8 92017363 missense variant T/C snv 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs121912438
rs121912438
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs121434592
rs121434592
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs121913529
rs121913529
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.030 1.000 3 2005 2016
dbSNP: rs2227513
rs2227513
3 1.000 0.080 12 68253559 intron variant T/C snv 0.15 0.010 1.000 1 2016 2016
dbSNP: rs1188975135
rs1188975135
4 0.882 0.040 22 39017772 missense variant T/C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs28399499
rs28399499
6 0.827 0.280 19 41012316 missense variant T/C snv 5.1E-03 2.2E-02 0.010 1.000 1 2017 2017
dbSNP: rs3211371
rs3211371
6 0.827 0.080 19 41016810 missense variant C/A;T snv 1.2E-04; 8.8E-02 0.010 1.000 1 2017 2017