Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 96
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv 73
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 58
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv 52
rs121913499
IDH1
0.605 0.520 2 208248389 missense variant G/A;C;T snv 51
rs118101777
IDH2
0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 42
rs1057519925
PIK3CA
0.683 0.560 3 179210291 missense variant G/A;C snv 25
rs1562127631
IRAK1BP1 ; PHIP
0.742 0.360 6 78961751 frameshift variant C/- del 24
rs1553284997
DIPK1A ; RPL5
0.790 0.400 1 92833544 splice acceptor variant G/C snv 17
rs587776667
PTEN
0.742 0.280 10 87931090 splice donor variant G/A;C;T snv 14
rs1057519736
IDH2
0.752 0.160 15 90088605 missense variant C/G snv 13
rs786200952
KAT6A
0.851 0.120 8 41934340 frameshift variant -/T delins 13
rs121913492
GNAQ
0.790 0.160 9 77794572 missense variant T/A;C;G snv 11
rs869025195
RIT1
0.790 0.280 1 155904493 missense variant T/G snv 11
rs387906819
GATA6
0.882 0.120 18 22181517 missense variant G/A snv 6
rs1057519853
GNAQ
0.851 0.080 9 77794572 missense variant TG/AA mnv 6
rs1085308040
PTEN
0.851 0.200 10 87961096 missense variant G/A;T snv 6
rs752907384
VEGFA
0.827 0.200 6 43782077 missense variant C/G;T snv 8.0E-06 6
rs1085308053
PTEN
0.882 0.080 10 87952230 missense variant C/T snv 5
rs1555459345
PKD1
1.000 0.040 16 2119114 missense variant A/G snv 3
rs34255532
FLT4
0.925 0.080 5 180618911 missense variant G/A;C snv 3.5E-03; 5.2E-06 2
rs121917766
KDR
0.925 0.080 4 55088939 missense variant G/A;C snv 9.2E-05; 4.0E-06 2
rs1057520900
PTEN
0.925 0.080 10 87957893 stop gained T/C;G snv 2