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: rs1057519695
rs1057519695
NRAS
35 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.010 1.000 1 2017 2017
dbSNP: rs1057519848
rs1057519848
EGFR
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.040 1.000 4 2012 2018
dbSNP: rs1057519834
rs1057519834
NRAS
31 0.658 0.480 1 114713908 missense variant TG/CT mnv 0.010 1.000 1 2017 2017
dbSNP: rs1057519824
rs1057519824
MET
10 0.807 0.120 7 116783374 missense variant T/G snv 0.020 1.000 2 2005 2009
dbSNP: rs20576
rs20576
TNFRSF10A
34 0.637 0.400 8 23200707 missense variant T/G snv 0.15 0.14 0.020 1.000 2 2008 2013
dbSNP: rs5361
rs5361
SELE ; C1orf112
47 0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 0.020 1.000 2 2007 2009
dbSNP: rs1131692237
rs1131692237
ERBB2 ; MIR4728
2 1.000 0.040 17 39725161 missense variant T/G snv 0.010 1.000 1 2018 2018
dbSNP: rs2282679
rs2282679
GC
38 0.645 0.480 4 71742666 intron variant T/G snv 0.21 0.010 < 0.001 1 2016 2016
dbSNP: rs3212227
rs3212227
IL12B
65 0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 0.010 < 0.001 1 2013 2013
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2004 2004
dbSNP: rs762471803
rs762471803
YAP1
6 0.925 0.040 11 102114201 missense variant T/G snv 0.010 1.000 1 2018 2018
dbSNP: rs768827923
rs768827923
PIK3CD
6 0.851 0.080 1 9721816 missense variant T/G snv 0.010 1.000 1 2018 2018
dbSNP: rs121913364
rs121913364
BRAF
34 0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 0.020 1.000 2 2006 2016
dbSNP: rs1760944
rs1760944
APEX1 ; OSGEP
26 0.672 0.480 14 20454990 non coding transcript exon variant T/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs4149117
rs4149117
SLCO1B3 ; SLCO1B3-SLCO1B7
15 0.763 0.360 12 20858546 missense variant T/C;G snv 0.81 0.010 1.000 1 2017 2017
dbSNP: rs653765
rs653765
ADAM10
10 0.763 0.240 15 58749813 upstream gene variant T/C;G snv 0.45 0.010 1.000 1 2018 2018
dbSNP: rs752021744
rs752021744
PIK3CB
29 0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05 0.020 1.000 2 2010 2016
dbSNP: rs763059810
rs763059810
CXCR4
41 0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 0.020 1.000 2 2012 2016
dbSNP: rs1056629
rs1056629
MPHOSPH6
6 0.827 0.120 16 82148499 3 prime UTR variant T/C snv 0.14 0.010 1.000 1 2016 2016
dbSNP: rs1057519864
rs1057519864
AR
8 0.851 0.080 X 67723707 missense variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs10817938
rs10817938
PTCSC2
5 0.882 0.080 9 97700127 non coding transcript exon variant T/C snv 3.2E-02 0.010 1.000 1 2016 2016
dbSNP: rs1219211410
rs1219211410
CDC25B
3 0.925 0.080 20 3800494 missense variant T/C snv 0.010 1.000 1 2010 2010
dbSNP: rs140451238
rs140451238
ITK
2 1.000 0.080 5 157208978 synonymous variant T/C snv 1.6E-04 7.8E-04 0.010 1.000 1 2018 2018
dbSNP: rs1478604
rs1478604
THBS1
9 0.807 0.240 15 39581120 5 prime UTR variant T/C snv 0.40 0.010 1.000 1 2012 2012
dbSNP: rs148626207
rs148626207
NFKB1 ; LOC105377347
1 4 102612593 missense variant T/C snv 8.0E-06 1.4E-05 0.010 1.000 1 2019 2019