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: rs2070744
rs2070744
NOS3
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.010 1.000 1 2019 2019
dbSNP: rs2279744
rs2279744
MDM2
48 0.605 0.640 12 68808800 intron variant T/G snv 0.31 0.010 1.000 1 2015 2015
dbSNP: rs2289937
rs2289937
RAD21
4 0.882 0.080 8 116861572 intron variant G/A;C snv 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: rs3021094
rs3021094
IL10 ; IL19
8 0.827 0.360 1 206771607 intron variant T/G snv 8.0E-02 0.010 1.000 1 2013 2013
dbSNP: rs3212948
rs3212948
ERCC1
10 0.776 0.160 19 45421104 intron variant G/C snv 0.53 0.010 1.000 1 2019 2019
dbSNP: rs3761548
rs3761548
FOXP3
42 0.620 0.680 X 49261784 intron variant G/A;T snv 0.010 1.000 1 2018 2018
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: rs4024
rs4024
AFP
7 0.827 0.120 4 73435667 intron variant G/A snv 0.52 0.010 1.000 1 2019 2019
dbSNP: rs4328905
rs4328905
HPSE
1 4 83322396 intron variant A/G snv 0.18 0.18 0.010 1.000 1 2010 2010
dbSNP: rs4579555
rs4579555
RAD21
4 0.882 0.080 8 116867092 intron variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs4648068
rs4648068
NFKB1
9 0.790 0.240 4 102597148 intron variant A/G snv 0.31 0.010 1.000 1 2012 2012
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: rs4939827
rs4939827
SMAD7
25 0.708 0.160 18 48927093 intron variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs6737848
rs6737848
SOCS5 ; LINC01118
1 2 46701027 intron variant C/G snv 0.14 0.010 1.000 1 2014 2014
dbSNP: rs737241
rs737241
AFP
7 0.827 0.120 4 73451012 intron variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs738791
rs738791
MMP11
6 0.851 0.120 22 23775338 intron variant C/T snv 0.37 0.010 1.000 1 2019 2019
dbSNP: rs966423
rs966423
DIRC3
11 0.776 0.200 2 217445617 intron variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs9679162
rs9679162
GALNT14
4 0.882 0.120 2 31024648 intron variant G/T snv 0.48 0.010 1.000 1 2017 2017
dbSNP: rs2660852
rs2660852 		3 12 96051770 intergenic variant C/A snv 0.34 0.010 1.000 1 2016 2016
dbSNP: rs4769793
rs4769793 		8 0.807 0.120 13 29985289 intergenic variant G/C snv 0.010 1.000 1 2011 2011
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: rs1114167628
rs1114167628
PTEN
5 0.925 0.080 10 87961033 stop gained -/ATATCTAG delins 0.010 1.000 1 2013 2013
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 2008 2008
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 0.927 41 2007 2018