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: rs6457327
rs6457327 		7 0.790 0.320 6 31106253 downstream gene variant A/C snv 0.66 0.750 1.000 5 2009 2014
dbSNP: rs13198610
rs13198610 		1 1.000 0.120 6 32457895 downstream gene variant G/T snv 0.13 0.700 1.000 1 2012 2012
dbSNP: rs28895171
rs28895171 		1 1.000 0.120 6 32455244 downstream gene variant G/A snv 0.13 0.700 1.000 1 2012 2012
dbSNP: rs28895187
rs28895187 		1 1.000 0.120 6 32456603 downstream gene variant G/A snv 0.13 0.700 1.000 1 2012 2012
dbSNP: rs3115667
rs3115667 		3 0.882 0.200 6 31675622 downstream gene variant T/A;C snv 0.74 0.010 1.000 1 2011 2011
dbSNP: rs6054706
rs6054706 		1 1.000 0.120 20 149223 downstream gene variant C/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs6932542
rs6932542 		5 0.827 0.200 6 32412485 downstream gene variant A/G snv 0.55 0.700 1.000 1 2011 2011
dbSNP: rs2857597
rs2857597
AIF1
3 0.882 0.200 6 31617223 upstream gene variant T/A snv 0.74 0.010 1.000 1 2011 2011
dbSNP: rs3763313
rs3763313
BTNL2
7 0.807 0.320 6 32408694 upstream gene variant A/C snv 0.21 0.700 1.000 1 2012 2012
dbSNP: rs9275572
rs9275572 		15 0.724 0.360 6 32711222 upstream gene variant A/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs587776637
rs587776637
BCL10
1 1.000 0.120 1 85267692 inframe deletion TCT/- delins 0.700 0
dbSNP: rs387907272
rs387907272
MYD88
73 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 0.020 1.000 2 2016 2019
dbSNP: rs764562217
rs764562217
TP53
3 0.882 0.120 17 7673308 stop lost T/G snv 2.3E-05 3.5E-05 0.010 1.000 1 2007 2007
dbSNP: rs10190751
rs10190751
CFLAR ; CFLAR-AS1
4 0.882 0.120 2 201141373 splice acceptor variant G/A snv 0.18 0.26 0.010 1.000 1 2009 2009
dbSNP: rs1805377
rs1805377
XRCC4
19 0.689 0.480 5 83353124 splice acceptor variant G/A snv 0.23 0.25 0.010 1.000 1 2014 2014
dbSNP: rs587776632
rs587776632
BCL10
2 0.925 0.120 1 85267901 frameshift variant A/-;AAA delins 0.700 0
dbSNP: rs587776633
rs587776633
BCL10
1 1.000 0.120 1 85270732 frameshift variant -/T delins 0.700 0
dbSNP: rs587776634
rs587776634
BCL10
1 1.000 0.120 1 85267788 frameshift variant TGCCTACTTCTAGAACA/- del 0.700 0
dbSNP: rs587776635
rs587776635
BCL10
1 1.000 0.120 1 85267919 frameshift variant T/- delins 0.700 0
dbSNP: rs587776636
rs587776636
BCL10
1 1.000 0.120 1 85267930 frameshift variant -/A delins 0.700 0
dbSNP: rs568408
rs568408
IL12A ; IL12A-AS1
29 0.649 0.600 3 159995680 3 prime UTR variant G/A snv 0.16 0.010 1.000 1 2011 2011
dbSNP: rs1883832
rs1883832
CD40
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.010 1.000 1 2011 2011
dbSNP: rs1056503
rs1056503
XRCC4
4 0.851 0.200 5 83353158 synonymous variant T/A;G snv 4.0E-06; 0.23 0.010 1.000 1 2014 2014
dbSNP: rs172378
rs172378
C1QA
11 0.790 0.240 1 22638945 synonymous variant A/G snv 0.49 0.51 0.010 1.000 1 2008 2008
dbSNP: rs372411058
rs372411058
FCGR3B
1 1.000 0.120 1 161626395 synonymous variant C/T snv 2.0E-05 4.2E-05 0.010 1.000 1 2008 2008