Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs878853647
CDKN2A
0.882 0.120 9 21971099 missense variant C/G;T snv 1
rs121913407
CTNNB1
0.763 0.240 3 41224645 missense variant T/C;G snv 1
rs121913409
CTNNB1
0.708 0.400 3 41224646 missense variant C/A;G;T snv 1
rs28931589
CTNNB1
0.695 0.240 3 41224613 missense variant G/A;C;T snv 1
rs121913113
FGFR3
0.882 0.240 4 1806076 missense variant G/A snv 1
rs121913233
HRAS ; LRRC56
0.627 0.520 11 533874 missense variant T/A;C;G snv 1
rs1057519713
KIT
0.925 0.120 4 54736498 missense variant G/C snv 1
rs121913514
KIT
0.763 0.240 4 54733174 missense variant T/A;G snv 1
rs121913517
KIT
0.851 0.120 4 54727444 missense variant T/A;C;G snv 1
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 1
rs121909233
KLLN ; PTEN
1.000 0.040 10 87864524 missense variant G/A snv 1
rs121913240
KRAS
0.672 0.440 12 25227342 missense variant T/A;C;G snv 1
rs104894229
LRRC56 ; HRAS
0.564 0.600 11 534289 missense variant C/A;G;T snv 1
rs149617956
MITF
0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 1
rs36053993
MUTYH
0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 1
rs587782228
MUTYH
0.882 0.120 1 45330557 missense variant C/A;T snv 4.2E-06; 4.2E-06 1
rs121913250
NRAS
0.683 0.440 1 114716127 missense variant C/A;G;T snv 1
rs121909234
PTEN
1.000 0.040 10 87957867 missense variant G/A snv 1
rs137853080
STK11
1.000 0.040 19 1207058 missense variant T/G snv 1
rs137853081
STK11
1.000 0.040 19 1219352 missense variant G/C;T snv 1
rs121913343
TP53
0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 1
rs28934578
TP53
0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 1
rs762846821
TP53
0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 1
rs200476704
TRAPPC1 ; CNTROB ; KCNAB3
1.000 0.040 17 7930659 stop gained G/A;C snv 2.4E-05 1
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 2