Source: CURATED ×
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: rs1801282
rs1801282
PPARG
5 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
13 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.900 0.966 12 2005 2019
dbSNP: rs121913529
rs121913529
KRAS
21 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.710 1.000 5 1987 2014
dbSNP: rs121912651
rs121912651
TP53
37 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.710 1.000 3 2010 2016
dbSNP: rs11540652
rs11540652
TP53
42 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.710 1.000 4 2014 2019
dbSNP: rs121913500
rs121913500
IDH1
19 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.760 0.923 7 2009 2019
dbSNP: rs11554290
rs11554290
NRAS
25 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.710 1.000 6 1987 2016
dbSNP: rs28934576
rs28934576
TP53
39 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.700 1.000 4 2014 2016
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
52 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
37 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.710 1.000 1 2014 2016
dbSNP: rs121913237
rs121913237
NRAS
12 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.740 1.000 9 1987 2017
dbSNP: rs104894226
rs104894226
HRAS ; LRRC56
23 0.658 0.560 11 534285 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
30 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894360
rs104894360
KRAS
14 0.724 0.560 12 25209904 missense variant T/A;C snv 0.700 0
dbSNP: rs121913499
rs121913499
IDH1
18 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.740 1.000 7 2009 2016
dbSNP: rs121913343
rs121913343
TP53
29 0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 0.700 1.000 4 2014 2016
dbSNP: rs121913233
rs121913233
HRAS ; LRRC56
21 0.627 0.520 11 533874 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs121917759
rs121917759
HRAS ; LRRC56
7 0.790 0.480 11 533466 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs28933406
rs28933406
HRAS ; LRRC56
17 0.667 0.480 11 533875 missense variant G/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913250
rs121913250
NRAS
13 0.683 0.440 1 114716127 missense variant C/A;G;T snv 0.700 1.000 7 1987 2016
dbSNP: rs121434596
rs121434596
NRAS
14 0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.700 1.000 2 2009 2016
dbSNP: rs1057519991
rs1057519991
TP53
19 0.662 0.440 17 7675076 missense variant T/A;C;G snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs587781288
rs587781288
TP53
15 0.732 0.440 17 7675190 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs760043106
rs760043106
TP53
18 0.645 0.440 17 7674947 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs786201838
rs786201838
TP53
23 0.683 0.440 17 7674953 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016