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: rs121913338
rs121913338
BRAF
24 0.677 0.400 7 140753354 missense variant T/A;C;G snv 0.800 1.000 1 2003 2003
dbSNP: rs121913355
rs121913355
BRAF
42 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.800 1.000 1 2003 2003
dbSNP: rs121913357
rs121913357
BRAF
12 0.742 0.320 7 140781603 stop gained C/A;G;T snv 0.800 1.000 1 2003 2003
dbSNP: rs28936699
rs28936699
CASP10
1 1.000 0.120 2 201209388 missense variant C/T snv 0.800 1.000 1 2002 2002
dbSNP: rs1023835002
rs1023835002
B2M ; PATL2
10 0.763 0.280 15 44711547 start lost A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519877
rs1057519877
B2M ; PATL2
10 0.763 0.280 15 44711549 start lost G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519879
rs1057519879
B2M ; PATL2
10 0.763 0.280 15 44711548 start lost T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519894
rs1057519894
EZH2
2 0.925 0.160 7 148811650 missense variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519909
rs1057519909
MAP2K1
7 0.790 0.240 15 66435116 missense variant A/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519918
rs1057519918
MYC ; CASC11
5 0.851 0.200 8 127738390 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519941
rs1057519941
PIK3CA
10 0.776 0.240 3 179203761 missense variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519942
rs1057519942
PIK3CA
16 0.724 0.320 3 179203760 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519952
rs1057519952
RHOA
5 0.882 0.160 3 49375577 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519953
rs1057519953
RHOA
8 0.807 0.200 3 49375576 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519954
rs1057519954
RHOA
4 0.882 0.160 3 49375465 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057520002
rs1057520002
TP53
20 0.695 0.360 17 7674242 missense variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057520007
rs1057520007
TP53
21 0.701 0.440 17 7674917 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs121434595
rs121434595
NRAS
19 0.708 0.320 1 114716124 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121434596
rs121434596
NRAS
26 0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs267601394
rs267601394
EZH2
8 0.807 0.200 7 148811635 missense variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs267601395
rs267601395
EZH2
7 0.925 0.160 7 148811636 missense variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs28934573
rs28934573
TP53
28 0.667 0.480 17 7674241 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs28934574
rs28934574
TP53
31 0.658 0.440 17 7673776 missense variant G/A;C snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs730882008
rs730882008
TP53
23 0.683 0.440 17 7673775 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs750664148
rs750664148
MYC ; CASC11
5 0.851 0.200 8 127738434 missense variant A/C;G snv 0.700 1.000 1 2016 2016