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: rs387907272
rs387907272
MYD88
73 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 0.100 0.917 12 2013 2019
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.050 1.000 5 2004 2017
dbSNP: rs2230926
rs2230926
TNFAIP3
27 0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02 0.040 1.000 4 2013 2019
dbSNP: rs267601394
rs267601394
EZH2
8 0.807 0.200 7 148811635 missense variant T/A;G snv 0.720 1.000 4 2012 2016
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.030 1.000 3 2012 2015
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 1.000 3 2004 2017
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.030 0.333 3 2004 2017
dbSNP: rs1057519833
rs1057519833
EZH2
3 0.925 0.120 7 148809375 missense variant G/C snv 0.710 1.000 2 2012 2012
dbSNP: rs11540652
rs11540652
TP53
57 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.720 1.000 2 2013 2017
dbSNP: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.020 1.000 2 2008 2010
dbSNP: rs1800896
rs1800896
IL10 ; IL19
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.020 1.000 2 2008 2010
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.020 1.000 2 2004 2011
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.020 1.000 2 2013 2015
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: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2012 2012
dbSNP: rs1042752
rs1042752
POU2AF1
3 0.925 0.120 11 111352386 3 prime UTR variant A/G snv 0.39 0.010 1.000 1 2017 2017
dbSNP: rs10494879
rs10494879
IL19
3 0.925 0.120 1 206778859 intron variant C/A;G snv 0.36 0.010 1.000 1 2008 2008
dbSNP: rs1057519781
rs1057519781
ALK
9 0.807 0.160 2 29209816 missense variant C/G snv 0.010 1.000 1 2019 2019
dbSNP: rs11466782
rs11466782
ADAM19
3 0.925 0.120 5 157494947 intron variant A/G snv 0.10 0.010 1.000 1 2011 2011
dbSNP: rs11547328
rs11547328
CDK4
27 0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs121913105
rs121913105
FGFR3
30 0.653 0.600 4 1806163 missense variant A/C;T snv 0.010 1.000 1 2007 2007
dbSNP: rs121913237
rs121913237
NRAS
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: rs121913482
rs121913482
FGFR3
45 0.630 0.680 4 1801837 missense variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs121913485
rs121913485
FGFR3
18 0.716 0.400 4 1804372 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs121913503
rs121913503
IDH2
23 0.689 0.200 15 90088606 missense variant C/A;T snv 0.010 1.000 1 2019 2019