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: rs121913469
rs121913469
ERBB2
11 0.763 0.240 17 39723966 missense variant TT/CC mnv 0.710 1.000 2 2004 2015
dbSNP: rs1057519695
rs1057519695
NRAS
35 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.010 1.000 1 2016 2016
dbSNP: rs1057519848
rs1057519848
EGFR
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.100 0.968 31 2006 2019
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.090 0.667 9 2001 2018
dbSNP: rs3117582
rs3117582
BAG6 ; APOM
14 0.716 0.440 6 31652743 intron variant T/G snv 7.1E-02 0.760 1.000 7 2008 2017
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.020 1.000 2 2010 2012
dbSNP: rs2240688
rs2240688
PROM1 ; FGFBP2
7 0.790 0.160 4 15968726 3 prime UTR variant T/G snv 0.22 0.020 1.000 2 2013 2016
dbSNP: rs2279744
rs2279744
MDM2
48 0.605 0.640 12 68808800 intron variant T/G snv 0.31 0.020 1.000 2 2006 2008
dbSNP: rs6869366
rs6869366
XRCC4 ; TMEM167A
18 0.701 0.280 5 83075927 intron variant T/G snv 9.2E-02 0.020 1.000 2 2009 2013
dbSNP: rs10511729
rs10511729
LOC101929563
11 0.742 0.240 9 23557229 intron variant T/G snv 0.35 0.010 1.000 1 2014 2014
dbSNP: rs1063054
rs1063054
OSGIN2 ; NBN
6 0.807 0.160 8 89934373 3 prime UTR variant T/G snv 0.32 0.010 1.000 1 2010 2010
dbSNP: rs11119608
rs11119608
KCNH1
17 0.708 0.280 1 210816167 intron variant T/G snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs11778573
rs11778573
CCN4
4 0.851 0.080 8 133216687 intron variant T/G snv 0.59 0.010 1.000 1 2015 2015
dbSNP: rs12674822
rs12674822
ANGPT2 ; MCPH1
4 0.851 0.200 8 6531695 intron variant T/G snv 0.49 0.010 1.000 1 2019 2019
dbSNP: rs1273593548
rs1273593548
PIK3CG
19 0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06 0.010 1.000 1 2016 2016
dbSNP: rs1419255508
rs1419255508
MXRA5
1 1.000 0.080 X 3310056 missense variant T/G snv 9.6E-06 0.700 1.000 1 2012 2012
dbSNP: rs17181550
rs17181550
LINC00511
1 1.000 0.080 17 72303817 intron variant T/G snv 0.38 0.700 1.000 1 2017 2017
dbSNP: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2014 2014
dbSNP: rs20576
rs20576
TNFRSF10A
34 0.637 0.400 8 23200707 missense variant T/G snv 0.15 0.14 0.010 1.000 1 2013 2013
dbSNP: rs2070584
rs2070584
SYN1 ; TIMP1 ; MIR4769
8 0.790 0.200 X 47587120 intron variant T/G snv 0.44 0.010 1.000 1 2016 2016
dbSNP: rs2562796
rs2562796
HIBCH
3 0.882 0.080 2 190248283 intron variant T/G snv 0.30 0.010 1.000 1 2014 2014
dbSNP: rs2602141
rs2602141
TP53BP1
9 0.790 0.120 15 43432448 missense variant T/G snv 0.36 0.47 0.010 1.000 1 2011 2011
dbSNP: rs2741348
rs2741348
EPHX2 ; GULOP
1 1.000 0.080 8 27563265 intron variant T/G snv 0.50 0.700 1.000 1 2017 2017
dbSNP: rs2854509
rs2854509
XRCC1
6 0.807 0.160 19 43570445 intron variant T/G snv 0.80 0.010 < 0.001 1 2015 2015
dbSNP: rs3212980
rs3212980
ERCC1
3 0.882 0.080 19 45413183 intron variant T/G snv 0.26 0.010 1.000 1 2013 2013