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: rs1138272
rs1138272
GSTP1
42 0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02 0.010 1.000 1 2013 2013
dbSNP: rs11506105
rs11506105
EGFR
4 0.851 0.160 7 55152484 intron variant A/G snv 0.59 0.010 1.000 1 2017 2017
dbSNP: rs115303435
rs115303435
TNFRSF6B ; RTEL1 ; RTEL1-TNFRSF6B
1 1.000 0.040 20 63694806 missense variant G/A snv 3.2E-03 1.1E-03 0.010 1.000 1 2018 2018
dbSNP: rs11554137
rs11554137
IDH1
13 0.742 0.040 2 208248468 synonymous variant G/A snv 5.1E-02 6.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs11571378
rs11571378
RAD52
2 0.925 0.080 12 950115 intron variant A/C;T snv 0.010 1.000 1 2014 2014
dbSNP: rs11583706
rs11583706
LOC105373220
2 1.000 0.040 1 238358337 intron variant G/T snv 0.17 0.700 1.000 1 2009 2009
dbSNP: rs11598018
rs11598018
STN1
2 1.000 0.040 10 103901557 intron variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs11599775
rs11599775
VTI1A
2 1.000 0.040 10 112699938 intron variant G/A snv 0.27 0.700 1.000 1 2017 2017
dbSNP: rs11603023
rs11603023
PHLDB1
3 0.925 0.120 11 118615352 intron variant T/C snv 0.57 0.700 1.000 1 2011 2011
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.020 1.000 2 2010 2017
dbSNP: rs11615
rs11615
ERCC1
62 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.020 0.500 2 2012 2017
dbSNP: rs11706832
rs11706832
LRIG1
2 1.000 0.040 3 66452557 intron variant A/C;G snv 0.710 1.000 2 2017 2018
dbSNP: rs11730
rs11730
NMI
1 1.000 0.040 2 151270497 3 prime UTR variant A/G snv 0.36 0.010 1.000 1 2015 2015
dbSNP: rs117677079
rs117677079
ANXA5
3 0.882 0.040 4 121673909 intron variant T/C snv 8.3E-03 0.010 1.000 1 2019 2019
dbSNP: rs118101777
rs118101777
IDH2
42 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 0.050 1.000 5 2014 2019
dbSNP: rs11860248
rs11860248
RBBP6
5 0.882 0.040 16 24566445 intron variant T/G snv 0.27 0.010 1.000 1 2014 2014
dbSNP: rs11943456
rs11943456
TMEM165
18 0.708 0.320 4 55410167 intron variant T/C snv 0.42 0.010 1.000 1 2017 2017
dbSNP: rs1197458016
rs1197458016
SNAPC3 ; PSIP1
1 1.000 0.040 9 15466782 missense variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs11979158
rs11979158
EGFR
5 0.882 0.040 7 55091656 intron variant A/G;T snv 0.20 0.850 1.000 6 2011 2018
dbSNP: rs12021720
rs12021720
DBT
3 0.925 0.160 1 100206504 missense variant T/A;C snv 0.92 0.700 1.000 1 2009 2009
dbSNP: rs12076373
rs12076373
AKT3
2 1.000 0.040 1 243688645 intron variant G/C snv 0.20 0.700 1.000 1 2017 2017
dbSNP: rs12088062
rs12088062 		2 1.000 0.040 1 244811284 intergenic variant C/T snv 0.20 0.700 1.000 1 2009 2009
dbSNP: rs12125049
rs12125049
LINC02778 ; LOC105378761
2 1.000 0.040 1 60202030 intergenic variant C/T snv 0.12 0.700 1.000 1 2009 2009
dbSNP: rs1214285376
rs1214285376
XRCC1
8 0.776 0.200 19 43543490 missense variant G/T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 0.667 3 2013 2018