Source: CURATED ×
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 37
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv 34
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
rs267607144
TRPV4
0.716 0.360 12 109800665 missense variant C/T snv 17
rs398123009
PACS1
0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06 17
rs672601370
KIF1A
0.790 0.160 2 240775863 missense variant G/A snv 13
rs267607048
SHOC2
0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 12
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
rs1131692232
PUF60
0.851 0.160 8 143818426 inframe deletion GGGCAAAGG/- delins 6
rs587777450
PIEZO2
0.790 0.320 18 10671729 missense variant C/T snv 6
rs80338797
RAF1
0.827 0.160 3 12584624 missense variant G/C;T 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
rs121918490
FGFR2
0.851 0.080 10 121517342 missense variant G/C snv 5
rs397507529
PTPN11
0.851 0.160 12 112473031 missense variant A/G snv 7.0E-06 5
rs397514481
PLCB4
0.882 0.040 20 9409080 missense variant G/A;T snv 5
rs587783685
KMT2D
0.925 0.120 12 49032113 stop gained G/A snv 5
rs782297546
KMT2A
0.925 0.240 11 118473471 frameshift variant C/-;CC delins 5
rs869025340
BRAF
0.925 0.160 7 140777032 missense variant A/C;G;T snv 5
rs878853160
CDK13
0.882 0.120 7 40046007 missense variant A/G snv 5
rs1057517825
DERL3 ; SMARCB1
0.925 22 23834143 missense variant G/A snv 4
rs1057521083
SATB2
0.925 0.200 2 199348709 missense variant G/A snv 4