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: rs16906252
rs16906252
MGMT
19 0.732 0.200 10 129467281 synonymous variant C/T snv 5.5E-02 5.1E-02 0.010 1.000 1 2020 2020
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 0.907 43 2003 2019
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.929 42 2003 2019
dbSNP: rs121913279
rs121913279
PIK3CA
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.060 0.833 6 2012 2019
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.040 1.000 4 2005 2019
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.040 1.000 4 2014 2019
dbSNP: rs895819
rs895819
LOC284454 ; MIR23A ; MIR24-2 ; MIR27A
46 0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 0.030 0.667 3 2012 2019
dbSNP: rs1057519874
rs1057519874
RAC1
9 0.807 0.120 7 6387261 missense variant C/A;T snv 0.020 1.000 2 2016 2019
dbSNP: rs1229984
rs1229984
ADH1B
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.020 1.000 2 2006 2019
dbSNP: rs1452231640
rs1452231640
POLB
4 1.000 0.080 8 42339015 missense variant T/C snv 4.0E-06 0.020 1.000 2 2019 2019
dbSNP: rs17822931
rs17822931
ABCC11
7 0.827 0.080 16 48224287 missense variant C/G;T snv 4.0E-06; 0.22 0.13 0.020 0.500 2 2011 2019
dbSNP: rs187084
rs187084
TLR9
36 0.641 0.480 3 52227015 intron variant A/G snv 0.38 0.020 1.000 2 2012 2019
dbSNP: rs281864719
rs281864719
ALK
14 0.763 0.240 2 29220831 missense variant A/C;G;T snv 0.020 1.000 2 2014 2019
dbSNP: rs863225281
rs863225281
ALK
12 0.776 0.200 2 29220829 missense variant G/C;T snv 0.020 1.000 2 2014 2019
dbSNP: rs11646171
rs11646171
CDH8
1 16 61824185 intron variant G/A snv 0.13 0.010 1.000 1 2019 2019
dbSNP: rs119484086
rs119484086
ELAC2
5 0.851 0.080 17 12992957 missense variant C/A;T snv 4.0E-06; 5.3E-04 0.010 1.000 1 2019 2019
dbSNP: rs121912660
rs121912660
TP53
26 0.683 0.240 17 7673781 missense variant C/A;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs13254990
rs13254990
PVT1
4 0.882 0.120 8 128064205 intron variant C/T snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs13428812
rs13428812
DNMT3A
9 0.827 0.120 2 25269598 intron variant A/G snv 0.31 0.010 < 0.001 1 2019 2019
dbSNP: rs1400826115
rs1400826115
OGG1
2 1.000 0.080 3 9756770 missense variant A/G snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1453340173
rs1453340173
TSHZ1
1 18 75286531 missense variant C/T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs17878467
rs17878467
BIRC5
6 0.925 0.080 17 78214076 upstream gene variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 < 0.001 1 2019 2019
dbSNP: rs2001389
rs2001389
SUFU
3 0.925 0.120 10 102615501 intron variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs2070744
rs2070744
NOS3
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.010 < 0.001 1 2019 2019