Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv 73
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv 39
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 37
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs201893408
TMEM67
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 28
rs138659167
DHCR7
0.807 0.320 11 71435840 splice acceptor variant C/A;G snv 5.6E-05; 3.9E-03 20
rs1057519927
PIK3CA
0.716 0.240 3 179218295 missense variant A/C;G;T snv 19
rs397507531
PTPN11
0.752 0.320 12 112473040 missense variant T/C;G snv 18
rs121909574
TFAP2A-AS2 ; TFAP2A
0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06 17
rs267607144
TRPV4
0.716 0.360 12 109800665 missense variant C/T snv 17
rs147001633
DNMT3A
0.776 0.240 2 25234373 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.2E-04 15
rs200426926
THOC6 ; BICDL2
0.776 0.400 16 3027379 missense variant G/A;T snv 1.8E-04; 4.0E-06 13
rs672601370
KIF1A
0.790 0.160 2 240775863 missense variant G/A snv 13
rs137852813
SOS1
0.807 0.200 2 39051202 missense variant A/C;G snv 11
rs869025195
RIT1
0.790 0.280 1 155904493 missense variant T/G snv 11
rs387907329
WDR45 ; PRAF2
0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06 10
rs397518483
RARB
0.851 0.120 3 25596428 missense variant C/A;T snv 9
rs587777450
PIEZO2
0.790 0.320 18 10671729 missense variant C/T snv 9
rs80338797
RAF1
0.827 0.160 3 12584624 missense variant G/C;T snv 7
rs1131692232
PUF60
0.851 0.160 8 143818426 inframe deletion GGGCAAAGG/- delins 6
rs121918490
FGFR2
0.851 0.080 10 121517342 missense variant G/C snv 6
rs1057519430
DDX3X
0.925 X 41346946 missense variant C/T snv 5
rs113001196
FBN1
0.882 0.160 15 48432947 stop gained G/A snv 5
rs199472921
KCNH2
0.882 0.120 7 150951712 missense variant C/G;T snv 5
rs201108965
TMEM216
0.851 0.320 11 61393965 missense variant G/A;T snv 8.0E-06; 1.7E-04 5