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: rs121913530
rs121913530
KRAS
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs121913535
rs121913535
KRAS
14 0.742 0.320 12 25245348 missense variant C/A;G;T snv 0.010 1.000 1 2012 2012
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
dbSNP: rs1219211410
rs1219211410
CDC25B
3 0.925 0.080 20 3800494 missense variant T/C snv 0.010 1.000 1 2010 2010
dbSNP: rs1308088661
rs1308088661
ERBB2
2 17 39727880 missense variant G/A snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1317052311
rs1317052311
VEGFD ; PIR-FIGF
1 X 15358134 missense variant C/A snv 5.5E-06 0.010 1.000 1 2012 2012
dbSNP: rs13278062
rs13278062
TNFRSF10A ; LOC389641
8 0.807 0.200 8 23225458 non coding transcript exon variant G/A;C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1353702185
rs1353702185
MDM2
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1364963022
rs1364963022
ESR1
4 0.925 0.080 6 151944233 missense variant G/C snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1370041903
rs1370041903
PRKN
3 0.925 0.120 6 161350185 stop gained G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs137852578
rs137852578
AR
10 0.827 0.080 X 67723710 missense variant A/G snv 0.010 1.000 1 2002 2002
dbSNP: rs1412125
rs1412125
HMGB1
17 0.724 0.360 13 30467458 intron variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1418810723
rs1418810723
FN1
9 0.851 0.080 2 215409981 missense variant A/T snv 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1444669684
rs1444669684
CDKN2A ; CDKN2B-AS1
36 0.658 0.480 9 21994285 missense variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1458974438
rs1458974438
STK11
9 0.807 0.080 19 1206957 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs1487151044
rs1487151044
ZEB1
5 0.851 0.080 10 31510817 missense variant T/C snv 0.010 1.000 1 2014 2014
dbSNP: rs1490204625
rs1490204625
RASA1
5 0.925 0.160 5 87268486 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs1553260624
rs1553260624
H3-3A
14 0.763 0.080 1 226064454 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs1760944
rs1760944
APEX1 ; OSGEP
26 0.672 0.480 14 20454990 non coding transcript exon variant T/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs1800372
rs1800372
TP53
15 0.752 0.240 17 7674892 synonymous variant T/A;C snv 1.3E-02 0.010 1.000 1 2015 2015
dbSNP: rs1800624
rs1800624
AGER ; PBX2
33 0.658 0.480 6 32184610 upstream gene variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1800947
rs1800947
CRP
28 0.683 0.440 1 159713648 splice region variant C/A;G;T snv 4.4E-05; 5.1E-02; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs181264737
rs181264737
MTSS1
2 8 124589710 missense variant C/A;G;T snv 1.2E-05; 4.1E-06; 4.1E-06 0.010 1.000 1 2011 2011
dbSNP: rs2064863
rs2064863
AURKA
4 0.925 0.120 20 56387716 intron variant T/A;C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs2118593
rs2118593
RYBP
2 1.000 0.080 3 72447740 upstream gene variant G/A;C;T snv 0.010 1.000 1 2017 2017