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: 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: rs1057519771
rs1057519771
ABL1
2 1.000 0.080 9 130872201 missense variant G/C snv 0.010 1.000 1 2019 2019
dbSNP: rs137852578
rs137852578
AR
10 0.827 0.080 X 67723710 missense variant A/G snv 0.010 1.000 1 2002 2002
dbSNP: rs2273535
rs2273535
AURKA
38 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 0.020 1.000 2 2018 2018
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 0.857 14 2010 2019
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: rs200863613
rs200863613
CDKN2A
6 0.925 0.080 9 21971061 missense variant C/A;T snv 8.5E-05 3.7E-04 0.010 1.000 1 2017 2017
dbSNP: rs438034
rs438034
CENPF
4 0.882 0.120 1 214657274 stop gained A/G;T snv 0.61 0.010 1.000 1 2011 2011
dbSNP: rs10009228
rs10009228
CHRNA9
1 4 40354405 missense variant A/G snv 0.78 0.76 0.010 1.000 1 2012 2012
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: rs2073778
rs2073778
DGCR8
1 22 20087052 non coding transcript exon variant C/T snv 0.12 0.010 1.000 1 2013 2013
dbSNP: rs720012
rs720012
DGCR8
1 22 20111059 3 prime UTR variant G/A snv 0.12 0.010 1.000 1 2013 2013
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: rs121434568
rs121434568
EGFR
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.010 1.000 1 2012 2012
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: rs961150162
rs961150162
EGFR
3 7 55198779 missense variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
70 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.040 1.000 4 2016 2019
dbSNP: rs557263543
rs557263543
FGFR1
3 8 38412508 3 prime UTR variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs869320694
rs869320694
FGFR1
16 0.742 0.520 8 38414790 missense variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs351855
rs351855
FGFR4
58 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 0.030 1.000 3 2004 2015
dbSNP: rs1418810723
rs1418810723
FN1
9 0.851 0.080 2 215409981 missense variant A/T snv 8.0E-06 0.010 1.000 1 2011 2011
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: 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: 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