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: rs1190999960
rs1190999960
ZNRD2 ; FAM89B ; ZNRD2-AS1
9 0.807 0.240 11 65571690 missense variant G/A snv 0.020 1.000 2 2015 2017
dbSNP: rs121913237
rs121913237
NRAS
50 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.020 1.000 2 2015 2015
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: rs1250394819
rs1250394819
TMED7 ; TMED7-TICAM2 ; LOC101927100
9 0.807 0.240 5 115616325 missense variant C/T snv 4.0E-06 0.020 1.000 2 2015 2017
dbSNP: rs1444669684
rs1444669684
CDKN2A ; CDKN2B-AS1
36 0.658 0.480 9 21994285 missense variant C/A;T snv 0.020 1.000 2 2014 2016
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: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.020 1.000 2 1998 2007
dbSNP: rs1800449
rs1800449
LOX
33 0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17 0.020 1.000 2 2015 2016
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: rs568887534
rs568887534
DCTN6
9 0.807 0.240 8 30183156 missense variant A/G snv 4.0E-06 0.020 1.000 2 2015 2017
dbSNP: rs752021744
rs752021744
PIK3CB
29 0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05 0.020 1.000 2 2014 2015
dbSNP: rs755100942
rs755100942
ARL11
17 0.724 0.320 13 49630894 stop gained G/A snv 4.2E-06 0.020 1.000 2 2006 2006
dbSNP: rs771138120
rs771138120
CDKN2A
13 0.827 0.120 9 21971191 missense variant G/A;C;T snv 9.1E-06; 4.5E-06 0.020 0.500 2 2002 2003
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: rs876658657
rs876658657
MLH1
25 0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06 0.020 1.000 2 2008 2011
dbSNP: rs10036748
rs10036748
TNIP1
11 0.752 0.360 5 151078585 intron variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs10254120
rs10254120
PMS2
5 0.851 0.080 7 6005996 missense variant C/A;G;T snv 7.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs1045485
rs1045485
CASP8
34 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 0.010 1.000 1 2006 2006
dbSNP: rs1048638
rs1048638
CA9
10 0.807 0.160 9 35681125 3 prime UTR variant C/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs104893859
rs104893859
PITX2
3 0.925 0.080 4 110618669 missense variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs1057519747
rs1057519747
TP53
23 0.716 0.280 17 7675094 missense variant A/C;G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs1057519853
rs1057519853
GNAQ
6 0.851 0.080 9 77794572 missense variant TG/AA mnv 0.010 < 0.001 1 2018 2018
dbSNP: rs1057519865
rs1057519865
FOXL2 ; FOXL2NB
15 0.742 0.240 3 138946321 missense variant G/C snv 0.010 1.000 1 2017 2017
dbSNP: rs1057519903
rs1057519903
H3-3A
28 0.683 0.080 1 226064434 missense variant A/T snv 0.010 1.000 1 2017 2017
dbSNP: rs1057519921
rs1057519921
NFE2L2
10 0.763 0.240 2 177234231 missense variant T/C snv 0.010 1.000 1 2011 2011