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: rs985325188
rs985325188
APEX1 ; OSGEP
4 0.851 0.080 14 20456806 missense variant A/C snv 0.010 1.000 1 2013 2013
dbSNP: rs971074
rs971074
ADH7
3 0.925 0.040 4 99420704 synonymous variant C/T snv 0.12 0.13 0.010 < 0.001 1 2013 2013
dbSNP: rs9344
rs9344
CCND1
34 0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39 0.010 1.000 1 2013 2013
dbSNP: rs927068
rs927068
PTGIS
2 0.925 0.040 20 49561437 intron variant G/T snv 0.32 0.010 1.000 1 2015 2015
dbSNP: rs920778
rs920778
HOTAIR
36 0.633 0.480 12 53966448 intron variant G/A snv 0.57 0.010 1.000 1 2017 2017
dbSNP: rs876659477
rs876659477
TP53
3 0.882 0.040 17 7673730 missense variant T/C snv 0.010 1.000 1 2003 2003
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.040 1.000 4 2005 2014
dbSNP: rs8126
rs8126
TNFAIP2
8 0.807 0.080 14 103137232 3 prime UTR variant C/T snv 0.63 0.010 1.000 1 2014 2014
dbSNP: rs786203436
rs786203436
TP53
20 0.701 0.280 17 7675125 missense variant A/C;G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs7802034
rs7802034
XRCC2
2 0.925 0.040 7 152655183 intron variant A/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs770925903
rs770925903
KIDINS220
2 0.925 0.040 2 8731740 missense variant C/A;T snv 1.6E-05; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs770460061
rs770460061
GSTP1
14 0.742 0.240 11 67585239 missense variant T/C;G snv 4.0E-06; 1.2E-05 0.010 1.000 1 2008 2008
dbSNP: rs768623239
rs768623239
GSTM1 ; GSTM2
26 0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05 0.010 1.000 1 2013 2013
dbSNP: rs764146326
rs764146326
TP53
25 0.662 0.480 17 7673779 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs763015080
rs763015080
EDNRA
4 0.851 0.120 4 147539821 missense variant G/A snv 4.1E-06 0.010 1.000 1 2012 2012
dbSNP: rs762384959
rs762384959
APEX1 ; OSGEP
4 0.925 0.040 14 20456680 missense variant G/C snv 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs759412116
rs759412116
ERCC2
55 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.020 1.000 2 2005 2014
dbSNP: rs758272654
rs758272654
GNAS
50 0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs752153816
rs752153816
VEGFA
3 0.882 0.120 6 43780848 missense variant G/A;C snv 4.0E-06; 4.0E-06; 1.2E-05; 3.6E-05 0.010 < 0.001 1 2013 2013
dbSNP: rs749710704
rs749710704
BHMT ; DMGDH
7 0.790 0.160 5 79119289 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs747126003
rs747126003
IL6 ; IL6-AS1
18 0.689 0.400 7 22728790 missense variant A/G;T snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs698
rs698
ADH1B ; ADH1C
20 0.724 0.240 4 99339632 missense variant T/A;C snv 0.35 0.010 1.000 1 2012 2012
dbSNP: rs6898743
rs6898743
GHR
9 0.776 0.160 5 42602390 intron variant C/G snv 0.78 0.010 1.000 1 2014 2014
dbSNP: rs6796803
rs6796803 		4 0.925 0.040 3 186746318 intron variant T/A;C snv 0.710 1.000 1 2018 2018
dbSNP: rs671
rs671
ALDH2
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 1.000 1 2013 2013