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: rs121913343
rs121913343
TP53
44 0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs121913444
rs121913444
EGFR
18 0.724 0.160 7 55191831 missense variant T/A;C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs121913503
rs121913503
IDH2
23 0.689 0.200 15 90088606 missense variant C/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs121913529
rs121913529
KRAS
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.010 < 0.001 1 2007 2007
dbSNP: rs121918464
rs121918464
PTPN11
25 0.708 0.440 12 112450406 missense variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs12230172
rs12230172
LOC105369844
4 0.882 0.040 12 75848895 intron variant A/G snv 0.48 0.010 1.000 1 2015 2015
dbSNP: rs1249080185
rs1249080185
EPHB2
3 0.882 0.080 1 22784698 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs1259560536
rs1259560536
ADAM33
1 1.000 0.040 20 3671756 missense variant T/C snv 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs12645561
rs12645561
NEIL3
3 0.882 0.120 4 177339718 intron variant C/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs12885300
rs12885300
DIO2 ; DIO2-AS1
7 0.790 0.200 14 80211923 5 prime UTR variant C/A;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1306185959
rs1306185959
FGFR1
4 0.851 0.040 8 38429805 missense variant T/C snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2014 2014
dbSNP: rs1320938886
rs1320938886
BLZF1
4 0.851 0.040 1 169376605 missense variant T/G snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs13332653
rs13332653 		3 0.882 0.040 16 24578078 intergenic variant T/G snv 0.11 0.010 1.000 1 2014 2014
dbSNP: rs1340827343
rs1340827343
POU5F1 ; TCF19
4 0.851 0.040 6 31165259 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs1346787
rs1346787
EFEMP1 ; LOC112268416
3 0.882 0.040 2 55865477 downstream gene variant C/A;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1373481065
rs1373481065
GADD45A
6 0.827 0.040 1 67687668 missense variant A/G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1381537616
rs1381537616
HOXA9 ; HOXA10 ; HOXA10-HOXA9
4 0.851 0.040 7 27174132 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs1444669684
rs1444669684
CDKN2A ; CDKN2B-AS1
36 0.658 0.480 9 21994285 missense variant C/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs144551722
rs144551722 		4 0.851 0.040 X 43632629 intergenic variant G/A snv 0.13 0.010 1.000 1 2019 2019
dbSNP: rs1453633223
rs1453633223
CDKN2A
6 0.807 0.080 9 21974503 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs149840192
rs149840192
EGFR
7 0.807 0.080 7 55154129 missense variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs17296479
rs17296479 		5 0.851 0.040 5 81411157 non coding transcript exon variant T/A snv 9.4E-02 0.010 1.000 1 2012 2012
dbSNP: rs17748
rs17748
TREH ; PHLDB1
5 0.827 0.080 11 118657714 3 prime UTR variant C/T snv 0.18 0.010 1.000 1 2015 2015
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 < 0.001 1 2017 2017