Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs869025667
VHL
0.827 0.200 3 10149916 missense variant T/C snv 1
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv 67
rs121918464
PTPN11
0.708 0.440 12 112450406 missense variant G/A;C snv 7
rs1057518879
PLOD1
0.776 0.280 1 11965571 stop gained G/A snv 19
rs121918494
FGFR2
0.790 0.160 10 121517363 missense variant G/C snv 24
rs776587763
FGFR2
0.790 0.120 10 121520085 missense variant C/A;T snv 4.0E-06; 4.0E-06 6
rs730882245
KIAA1109
0.827 0.160 4 122207168 stop gained T/A snv 6
rs1060499542
PDGFRB
0.827 0.120 5 150125556 missense variant A/G snv 3
rs137852520
L1CAM
0.851 0.200 X 153868866 missense variant C/T snv 2
rs4647924
FGFR3
0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 30
rs431905509
SLC25A1
0.807 0.280 22 19176222 missense variant G/A;C snv 2.0E-05 8
rs1131692230
PDHA1
0.807 0.160 X 19353124 missense variant A/G snv 9
rs886039811
B9D1
0.807 0.320 17 19357875 missense variant A/G snv 4.0E-06 6
rs730882250
DPH1
0.882 0.080 17 2039760 missense variant T/C;G snv 4.0E-06; 4.0E-06 5
rs367543077
B3GALNT2 ; TBCE
0.882 0.120 1 235450286 stop gained G/A snv 1
rs730882225
NID1
0.925 0.040 1 235980495 splice donor variant C/T snv 4.0E-06 3
rs398122368
SMARCB1
0.925 0.040 22 23791772 missense variant G/A;C snv 1
rs1563406024
FZD3
0.851 0.240 8 28555799 frameshift variant -/A delins 4
rs866445127
NF1
0.851 0.240 17 31352348 stop gained C/T snv 3
rs778740017
COX6B1
0.925 0.120 19 35651301 missense variant C/T snv 4.0E-06 1
rs869312714
CREBBP
0.925 0.120 16 3729810 missense variant C/A snv 3
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 58
rs730882200
ARFGEF2
0.882 0.040 20 48953604 frameshift variant -/C delins 3
rs730882247
TMEM92
0.882 0.040 17 50277743 splice region variant A/G snv 3
rs1057519946
PPP2R1A
0.732 0.280 19 52212729 missense variant C/G;T snv 17