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: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.927 41 2007 2018
dbSNP: rs1049074086
rs1049074086
CTSD
9 0.925 0.120 11 1759567 missense variant A/G snv 7.0E-06 0.020 1.000 2 2007 2012
dbSNP: rs1057519847
rs1057519847
EGFR
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.020 1.000 2 2015 2018
dbSNP: rs1057519848
rs1057519848
EGFR
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.020 1.000 2 2015 2018
dbSNP: rs121434568
rs121434568
EGFR
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.020 1.000 2 2015 2018
dbSNP: rs121909218
rs121909218
PTEN
25 0.672 0.360 10 87933145 missense variant G/A snv 0.020 1.000 2 2002 2004
dbSNP: rs1022088103
rs1022088103
MMP2
1 16 55485759 missense variant G/A snv 0.010 1.000 1 2007 2007
dbSNP: rs1033313160
rs1033313160
MAPKAP1
1 9 125506375 missense variant G/T snv 0.010 < 0.001 1 2017 2017
dbSNP: rs1046282
rs1046282
ERCC1 ; PPP1R13L ; CD3EAP
10 0.776 0.160 19 45407414 3 prime UTR variant A/G snv 0.30 0.010 1.000 1 2019 2019
dbSNP: rs1057519695
rs1057519695
NRAS
35 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.010 1.000 1 2015 2015
dbSNP: rs1057519788
rs1057519788
ROS1
6 0.925 0.080 6 117317184 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs1057519834
rs1057519834
NRAS
31 0.658 0.480 1 114713908 missense variant TG/CT mnv 0.010 1.000 1 2015 2015
dbSNP: rs1057519906
rs1057519906
IDH2
8 0.882 0.120 15 90088607 missense variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs1064793929
rs1064793929
TP53
5 0.882 0.280 17 7675167 frameshift variant A/-;AA delins 0.010 1.000 1 2013 2013
dbSNP: rs11064
rs11064
TNFAIP8
9 0.807 0.120 5 119393693 3 prime UTR variant A/G snv 0.27 0.010 1.000 1 2019 2019
dbSNP: rs1114167628
rs1114167628
PTEN
5 0.925 0.080 10 87961033 stop gained -/ATATCTAG delins 0.010 1.000 1 2013 2013
dbSNP: rs11554290
rs11554290
NRAS
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs1156560901
rs1156560901
CDK15
2 2 201880120 missense variant A/G snv 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs11568818
rs11568818
MMP7
15 0.763 0.280 11 102530930 upstream gene variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs11801299
rs11801299
LOC105371692
9 0.807 0.200 1 204559956 downstream gene variant G/A snv 0.16 0.010 1.000 1 2019 2019
dbSNP: rs1194338
rs1194338 		3 0.925 0.080 11 65493967 upstream gene variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1196644309
rs1196644309
TXNIP
3 1.000 0.080 1 145995155 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs121913412
rs121913412
CTNNB1
19 0.724 0.280 3 41224633 missense variant A/C;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs121913430
rs121913430
EGFR
3 1.000 0.080 7 55174740 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs121918461
rs121918461
PTPN11
12 0.827 0.240 12 112450362 missense variant A/C;G;T snv 0.010 1.000 1 2016 2016