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: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.857 14 2010 2019
dbSNP: rs1284806277
rs1284806277
MOK
13 0.827 0.200 14 102251978 missense variant A/G snv 1.4E-05 0.020 1.000 2 2011 2016
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: rs104893626
rs104893626
CXCR4 ; LOC112268426
11 0.827 0.280 2 136114915 stop gained G/C snv 0.010 1.000 1 2014 2014
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 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: rs1057519771
rs1057519771
ABL1
2 1.000 0.080 9 130872201 missense variant G/C snv 0.010 1.000 1 2019 2019
dbSNP: rs1057519847
rs1057519847
EGFR
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.010 1.000 1 2012 2012
dbSNP: rs1057519848
rs1057519848
EGFR
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 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: rs11672691
rs11672691
PCAT19
3 0.925 0.080 19 41479679 non coding transcript exon variant G/A snv 0.42 0.010 1.000 1 2018 2018
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: rs121918464
rs121918464
PTPN11
25 0.708 0.440 12 112450406 missense variant G/A;C snv 0.010 < 0.001 1 2018 2018
dbSNP: rs1285136498
rs1285136498
NR3C1
13 0.807 0.080 5 143400101 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs137852578
rs137852578
AR
10 0.827 0.080 X 67723710 missense variant A/G snv 0.010 1.000 1 2002 2002
dbSNP: rs145204276
rs145204276
GAS5 ; ZBTB37 ; SNORD74 ; SNORD75 ; SNORD76 ; SNORD77 ; SNORA103
31 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs201216664
rs201216664
NME2 ; NME1-NME2
5 0.851 0.080 17 51171503 missense variant A/G snv 0.010 1.000 1 1995 1995
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: rs2073778
rs2073778
DGCR8
1 22 20087052 non coding transcript exon variant C/T snv 0.12 0.010 1.000 1 2013 2013
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: 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: rs557263543
rs557263543
FGFR1
3 8 38412508 3 prime UTR variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs55958994
rs55958994
KRT8
3 0.925 0.080 12 52907235 intron variant C/T snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs587782148
rs587782148
TP53
2 17 7676113 missense variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs587782529
rs587782529
TP53
8 0.851 0.200 17 7670700 missense variant G/A;C snv 0.010 1.000 1 1998 1998