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: rs1194624468
rs1194624468
PTK2
2 1.000 0.040 8 140700895 missense variant A/T snv 1.6E-05 0.010 1.000 1 2005 2005
dbSNP: rs1196644309
rs1196644309
TXNIP
3 1.000 0.080 1 145995155 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs121913430
rs121913430
EGFR
3 1.000 0.080 7 55174740 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs1431090090
rs1431090090
ZEB1
2 1.000 0.040 10 31520347 missense variant C/A snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs2835931
rs2835931
KCNJ6
4 1.000 0.120 21 37749345 intron variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs377767426
rs377767426
RET
2 1.000 0.080 10 43119694 missense variant C/G snv 1.8E-04 1.0E-04 0.010 1.000 1 2011 2011
dbSNP: rs3917412
rs3917412
SELE ; C1orf112
4 1.000 0.040 1 169731361 intron variant T/A;C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs477145
rs477145
TIAM1
4 1.000 0.120 21 31390097 intron variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs560890523
rs560890523
KRAS
3 1.000 0.080 12 25205729 3 prime UTR variant TT/-;T delins 0.010 1.000 1 2017 2017
dbSNP: rs57698689
rs57698689
KRAS
2 1.000 0.080 12 25205729 3 prime UTR variant TT/-;T delins 0.48 0.010 1.000 1 2017 2017
dbSNP: rs587782359
rs587782359
CDH1
3 1.000 0.080 16 68812244 missense variant C/G;T snv 2.8E-05 0.010 1.000 1 2007 2007
dbSNP: rs7240004
rs7240004 		4 1.000 0.040 18 48868651 intergenic variant A/G snv 0.43 0.010 1.000 1 2016 2016
dbSNP: rs750802459
rs750802459
CASP3
2 1.000 0.120 4 184635342 frameshift variant TCAGGATAATCCATTTTATAACTGTTGTCCAGGGATATTCCAGAGTC/- delins 5.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs752366963
rs752366963
SEC23B
2 1.000 20 18548646 missense variant T/G snv 8.0E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs877610
rs877610
TRPV1
3 1.000 17 3572196 synonymous variant C/T snv 4.6E-02 7.5E-02 0.010 1.000 1 2013 2013
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: rs1056123575
rs1056123575
ADAMTS1
4 0.925 0.080 21 26844557 missense variant G/A snv 4.2E-06 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1057519788
rs1057519788
ROS1
6 0.925 0.080 6 117317184 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs1114167628
rs1114167628
PTEN
5 0.925 0.080 10 87961033 stop gained -/ATATCTAG delins 0.010 1.000 1 2013 2013
dbSNP: rs1172398253
rs1172398253
CCN1
4 0.925 0.080 1 85582045 missense variant C/T snv 4.0E-06 0.010 1.000 1 2009 2009
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: rs1341667
rs1341667
STOX1
4 0.925 0.040 10 68882104 missense variant T/C snv 0.62 0.57 0.010 1.000 1 2010 2010
dbSNP: rs141613848
rs141613848
SLC9A3R1
4 0.925 0.080 17 74768481 missense variant A/T snv 1.0E-03 1.2E-03 0.010 1.000 1 2013 2013
dbSNP: rs1451539938
rs1451539938
CD82
3 0.925 0.080 11 44618361 missense variant A/G snv 4.1E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1646724
rs1646724
SLC35B4
3 0.925 0.080 7 134317123 upstream gene variant T/A;G snv 0.010 1.000 1 2018 2018