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: 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: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.030 1.000 3 2012 2015
dbSNP: rs17757541
rs17757541
BCL2
7 0.827 0.240 18 63212453 intron variant C/G;T snv 0.020 1.000 2 2013 2015
dbSNP: rs104893626
rs104893626
CXCR4 ; LOC112268426
11 0.827 0.280 2 136114915 stop gained G/C snv 0.010 1.000 1 2014 2014
dbSNP: rs1053023
rs1053023
STAT3
4 0.882 0.120 17 42313598 3 prime UTR variant T/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs1057520009
rs1057520009
XPO1
14 0.790 0.200 2 61492337 missense variant C/T snv 4.4E-06 0.010 1.000 1 2016 2016
dbSNP: rs121912438
rs121912438
SOD1
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 2018 2018
dbSNP: rs12566340
rs12566340
BCL2L15 ; AP4B1-AS1
3 0.925 0.200 1 113877706 3 prime UTR variant C/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs1472503583
rs1472503583
PWWP3A
4 0.925 0.160 19 1360712 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1799725
rs1799725
SOD2
1 6 159692840 missense variant A/G snv 0.010 1.000 1 2006 2006
dbSNP: rs2230926
rs2230926
TNFAIP3
27 0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02 0.010 1.000 1 2018 2018
dbSNP: rs2509049
rs2509049
H2AX
6 0.827 0.160 11 119095811 upstream gene variant C/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs355689
rs355689
CXCL13 ; LOC105377296
2 1.000 0.040 4 77586643 intron variant T/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs4671393
rs4671393
BCL11A
11 0.790 0.400 2 60493816 intron variant A/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs539846
rs539846
BMF
2 1.000 0.120 15 40105735 intron variant G/C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs764643047
rs764643047
OGG1
5 0.851 0.120 3 9750336 missense variant C/T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs773862672
rs773862672
MTOR
6 0.882 0.280 1 11247922 missense variant G/A;C snv 1.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs9610
rs9610
IL10RA ; SMIM35
4 0.882 0.240 11 118001371 3 prime UTR variant G/A;T snv 0.51 0.010 1.000 1 2012 2012
dbSNP: rs387907272
rs387907272
MYD88
73 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 0.070 1.000 7 2013 2018
dbSNP: rs141185042
rs141185042
DNM1L
1 12 32707409 missense variant A/T snv 4.1E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs149627368
rs149627368
REL
1 2 60922344 missense variant T/C snv 1.5E-04 1.0E-04 0.010 1.000 1 2007 2007
dbSNP: rs1800477
rs1800477
BCL2
12 0.763 0.480 18 63318540 missense variant C/T snv 1.8E-02 4.9E-03 0.010 1.000 1 2012 2012
dbSNP: rs78768932
rs78768932
PXN
6 0.882 0.080 12 120222977 missense variant C/G;T snv 5.4E-03 5.4E-03 0.010 1.000 1 2013 2013
dbSNP: rs2227945
rs2227945
BRCA1
2 1.000 0.080 17 43092113 missense variant T/C;G snv 2.5E-03 1.0E-02 0.010 1.000 1 2000 2000
dbSNP: rs3218674
rs3218674
ATM
2 1.000 0.120 11 108244860 synonymous variant C/G;T snv 1.1E-02 1.1E-02 0.010 1.000 1 2002 2002