Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 35
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv 31
rs1294950721
JAG1
0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06 27
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 24
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 19
rs912001256
SCN4A
0.851 0.240 17 63947062 stop gained G/A snv 17
rs759125480
CEP120
0.827 0.160 5 123377409 stop gained G/A snv 1.6E-05 16
rs1555565774
EFTUD2
0.807 0.360 17 44862753 frameshift variant G/- delins 16
rs483352822
RIT1
0.776 0.360 1 155904470 stop lost C/A;G;T snv 16
rs1057518914
RPS6KA3
0.790 0.160 X 20193547 missense variant G/C snv 14
rs180177039
BRAF
0.851 0.160 7 140778006 missense variant T/A;C;G snv 12
rs1555038029
KMT2A
0.776 0.400 11 118477973 stop gained C/A snv 12
rs121918466
PTPN11
0.752 0.280 12 112450416 missense variant A/G snv 12
rs1557612048
ARID1A
0.807 0.200 1 26767868 missense variant T/C snv 11
rs137852813
SOS1
0.807 0.200 2 39051202 missense variant A/C;G snv 11
rs1334099693
SOX4
0.882 0.080 6 21594732 missense variant C/A;T snv 4.6E-06 11
rs1555564126
EFTUD2
0.882 0.320 17 44853306 frameshift variant C/- delins 9
rs746800707
AAR2
0.851 0.160 20 36240388 missense variant G/A;C;T snv 1.2E-05; 4.0E-06 8
rs143044921
FREM2
0.827 0.280 13 38691375 missense variant G/A;T snv 3.5E-03 8
rs431905509
SLC25A1
0.807 0.280 22 19176222 missense variant G/A;C snv 2.0E-05 8
rs755246809
AHI1
0.827 0.280 6 135404951 frameshift variant T/- delins 5.9E-04 4.9E-05 7
rs1564062144
HNRNPK
1.000 9 83972190 splice acceptor variant C/T snv 7
rs1554643168
PUF60
0.851 0.160 8 143818077 splice acceptor variant T/C;G snv 7