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: rs1367644026
rs1367644026
KRT5
5 0.925 0.080 12 52520259 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs374052197
rs374052197
PDPN
5 0.882 0.040 1 13610421 missense variant G/A;T snv 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs745934102
rs745934102
PDPN
5 0.882 0.040 1 13607281 missense variant G/A snv 3.2E-05 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs771563543
rs771563543
ZEB1
5 0.851 0.040 10 31510841 missense variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs1872328
rs1872328
ACYP2
6 0.827 0.120 2 54168122 intron variant G/A snv 7.3E-02 0.020 1.000 2 2015 2016
dbSNP: rs149840192
rs149840192
EGFR
7 0.807 0.080 7 55154129 missense variant C/A;T snv 0.700 1.000 2 2006 2016
dbSNP: rs1800435
rs1800435
ALAD
7 0.827 0.200 9 113391611 missense variant C/G snv 8.3E-02 6.1E-02 0.010 1.000 1 2011 2011
dbSNP: rs773442580
rs773442580
EGF
7 0.851 0.080 4 109913367 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1057519906
rs1057519906
IDH2
8 0.882 0.120 15 90088607 missense variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs121909235
rs121909235
PTEN
8 0.851 0.240 10 87957919 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs876659675
rs876659675
TP53
8 0.807 0.280 17 7674199 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1052576
rs1052576
CASP9
9 0.807 0.200 1 15506048 missense variant T/A;C snv 0.53 0.010 1.000 1 2017 2017
dbSNP: rs1057519995
rs1057519995
TP53
9 0.807 0.240 17 7674200 missense variant T/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519926
rs1057519926
PIK3CA
10 0.776 0.200 3 179210293 missense variant A/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519986
rs1057519986
TP53
10 0.776 0.240 17 7673811 missense variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519987
rs1057519987
TP53
10 0.776 0.280 17 7673810 missense variant A/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519988
rs1057519988
TP53
10 0.776 0.240 17 7673812 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11568821
rs11568821
PDCD1 ; LOC105373977
10 0.827 0.200 2 241851760 intron variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs371409680
rs371409680
TP53
10 0.790 0.120 17 7673772 missense variant C/G;T snv 4.0E-05 7.0E-06 0.700 0
dbSNP: rs1057519933
rs1057519933
PIK3CA
11 0.790 0.240 3 179199156 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519934
rs1057519934
PIK3CA
11 0.790 0.240 3 179199158 missense variant G/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519935
rs1057519935
PIK3CA
11 0.790 0.240 3 179199157 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519936
rs1057519936
PIK3CA
11 0.776 0.200 3 179234284 missense variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519937
rs1057519937
PIK3CA
11 0.776 0.200 3 179234285 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs397516896
rs397516896
BRAF
11 0.763 0.360 7 140753355 missense variant C/G;T snv 0.700 1.000 1 2016 2016