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: rs1057519848
rs1057519848
EGFR
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.010 1.000 1 2012 2012
dbSNP: rs1273593548
rs1273593548
PIK3CG
19 0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06 0.010 1.000 1 2014 2014
dbSNP: rs758272654
rs758272654
GNAS
50 0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 0.030 1.000 3 2006 2010
dbSNP: rs752021744
rs752021744
PIK3CB
29 0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05 0.020 1.000 2 2011 2012
dbSNP: rs2057482
rs2057482
HIF1A ; HIF1A-AS2 ; HIF1A-AS3
21 0.701 0.440 14 61747130 3 prime UTR variant T/C snv 0.84 0.80 0.010 1.000 1 2016 2016
dbSNP: rs4444235
rs4444235 		23 0.701 0.240 14 53944201 downstream gene variant T/C snv 0.43 0.010 1.000 1 2014 2014
dbSNP: rs869320694
rs869320694
FGFR1
16 0.742 0.520 8 38414790 missense variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs969139366
rs969139366
PDGFRA
3 4 54277974 missense variant T/C snv 3.5E-05 0.010 1.000 1 2017 2017
dbSNP: rs121434568
rs121434568
EGFR
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs11568818
rs11568818
MMP7
15 0.763 0.280 11 102530930 upstream gene variant T/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs727503094
rs727503094
HRAS ; LRRC56
41 0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 0.010 1.000 1 2011 2011
dbSNP: rs1057519710
rs1057519710
KIT
22 0.695 0.280 4 54733166 missense variant G/C;T snv 0.010 1.000 1 2005 2005
dbSNP: rs104893626
rs104893626
CXCR4 ; LOC112268426
11 0.827 0.280 2 136114915 stop gained G/C snv 0.010 1.000 1 2014 2014
dbSNP: rs1057519771
rs1057519771
ABL1
2 1.000 0.080 9 130872201 missense variant G/C snv 0.010 1.000 1 2019 2019
dbSNP: rs1443465532
rs1443465532
VEGFA
6 0.882 0.080 6 43774362 missense variant G/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs3761548
rs3761548
FOXP3
42 0.620 0.680 X 49261784 intron variant G/A;T snv 0.020 1.000 2 2014 2018
dbSNP: rs2016347
rs2016347
IGF1R
9 0.790 0.160 15 98960571 3 prime UTR variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs4987188
rs4987188
MSH2
11 0.790 0.200 2 47416318 missense variant G/A;T snv 1.3E-02; 2.0E-05 0.010 1.000 1 2005 2005
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2013 2013
dbSNP: rs2227983
rs2227983
EGFR
31 0.658 0.520 7 55161562 missense variant G/A;C;T snv 0.29 0.010 < 0.001 1 2010 2010
dbSNP: rs121918464
rs121918464
PTPN11
25 0.708 0.440 12 112450406 missense variant G/A;C snv 0.010 < 0.001 1 2018 2018
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2007 2007
dbSNP: rs375874539
rs375874539
TP53
15 0.732 0.320 17 7674237 missense variant G/A;C snv 0.010 < 0.001 1 2009 2009
dbSNP: rs587782529
rs587782529
TP53
8 0.851 0.200 17 7670700 missense variant G/A;C snv 0.010 1.000 1 1998 1998
dbSNP: rs773862672
rs773862672
MTOR
6 0.882 0.280 1 11247922 missense variant G/A;C snv 1.2E-05 0.010 1.000 1 2014 2014