Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555429629
RAD51
0.763 0.200 15 40729632 missense variant G/A snv 23
rs1064796765
DYNC1H1
0.763 0.240 14 102002950 missense variant G/A snv 19
rs587783446
CHD7
0.763 0.280 8 60850546 stop gained C/T snv 19
rs879253753
ANKRD11
0.851 0.280 16 89280526 frameshift variant -/T delins 19
rs1553154130
RERE
0.807 0.280 1 8358231 missense variant T/A;C snv 18
rs1555377415
IRF2BPL ; LOC107984638
0.827 0.200 14 77027274 stop gained G/C snv 18
rs397507531
PTPN11
0.752 0.320 12 112473040 missense variant T/C;G snv 18
rs1064795104
EXOC6B
0.790 0.440 2 72498492 stop gained A/C snv 17
rs119103263
MFN2
0.827 0.240 1 11992659 missense variant C/T snv 17
rs672601334
RIT1
0.752 0.400 1 155904798 missense variant G/C snv 17
rs1057518907
GNAS
0.732 0.320 20 58891811 stop gained C/G;T snv 16
rs121918454
PTPN11
0.742 0.280 12 112450395 missense variant C/A;G;T snv 16
rs1555154946
ARID2 ; LOC105369745
0.827 0.120 12 45850644 stop gained C/T snv 16
rs1555565774
EFTUD2
0.807 0.360 17 44862753 frameshift variant G/- delins 16
rs1555741826
PRR12
0.776 0.280 19 49601646 frameshift variant TGCC/- delins 16
rs199474657
TRNL1 ; ND1 ; ND2
0.752 0.360 MT 3243 non coding transcript exon variant A/G snv 15
rs587777630
STAT1
0.716 0.440 2 190986921 missense variant G/A snv 15
rs724159949
LOC105372797 ; DYRK1A
0.827 0.240 21 37486563 stop gained C/T snv 15
rs730881014
RIT1
0.776 0.360 1 155904494 stop gained A/C;G;T snv 15
rs1561875767
CUL7 ; KLC4
1.000 0.200 6 43041036 stop gained G/A snv 14
rs1569525894
SLC9A6
0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins 14
rs1057519369
NF1
0.790 0.280 17 31340532 frameshift variant -/G delins 13
rs1561892336
CUL7 ; KLC4
0.807 0.200 6 43050050 stop gained C/T snv 13
rs587776917
ECEL1
0.776 0.200 2 232485937 stop gained -/T delins 13
rs121918466
PTPN11
0.752 0.280 12 112450416 missense variant A/G snv 12