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: rs4671393
rs4671393
BCL11A
11 0.790 0.400 2 60493816 intron variant A/C;G snv 0.010 1.000 1 2017 2017
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: rs1799725
rs1799725
SOD2
1 6 159692840 missense variant A/G snv 0.010 1.000 1 2006 2006
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2003 2003
dbSNP: rs2069812
rs2069812
IL5
5 0.851 0.240 5 132544224 intron variant A/G snv 0.54 0.010 1.000 1 2011 2011
dbSNP: rs3811021
rs3811021
PTPN22 ; RSBN1 ; AP4B1-AS1
2 1.000 0.080 1 113814041 3 prime UTR variant A/G snv 0.15 0.010 1.000 1 2010 2010
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2006 2006
dbSNP: rs9808753
rs9808753
IFNGR2
17 0.701 0.400 21 33415005 missense variant A/G snv 0.20 0.18 0.010 1.000 1 2011 2011
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: rs604714
rs604714
DPAGT1
3 0.925 0.120 11 119099986 intron variant C/A snv 0.31 0.010 1.000 1 2013 2013
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: 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: rs17757541
rs17757541
BCL2
7 0.827 0.240 18 63212453 intron variant C/G;T snv 0.020 1.000 2 2013 2015
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
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: 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: rs11886868
rs11886868
BCL11A
12 0.752 0.280 2 60493111 intron variant C/T snv 0.65 0.010 1.000 1 2017 2017
dbSNP: rs12144309
rs12144309
RSBN1
1 1 113772871 intron variant C/T snv 0.19 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: 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: rs6857600
rs6857600
ABCG2
3 0.925 0.120 4 88144923 intron variant C/T snv 0.28 0.010 1.000 1 2012 2012
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: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.030 1.000 3 2012 2015
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.020 1.000 2 2012 2013
dbSNP: rs1494555
rs1494555
IL7R
8 0.790 0.120 5 35871088 missense variant G/A snv 0.64 0.72 0.010 1.000 1 2011 2011