Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057518957
CHRND
1.000 0.040 2 232535143 missense variant G/T snv 4
rs1057518958
CHRND
1.000 0.040 2 232531353 frameshift variant T/- del 4
rs1060499549
ZNF462
0.882 0.120 9 106927699 stop gained C/T snv 4
rs758026634
MRPL43 ; TWNK
0.827 0.240 10 100989280 missense variant G/A;C snv 2.0E-05 5
rs1569146993
TCF20
0.851 0.320 22 42211700 frameshift variant -/C delins 5
rs1554442015
TWIST1
0.851 0.120 7 19116970 missense variant G/C snv 5
rs121912823
CHAT
0.851 0.280 10 49627681 missense variant T/C snv 4.0E-06 6
rs118192177
RYR1
0.851 0.160 19 38496283 missense variant C/G;T snv 2.0E-05 6
rs1555669248
TUBB6
0.807 0.280 18 12325970 missense variant T/C snv 6
rs863224880
IGHMBP2
0.925 0.160 11 68906074 stop gained G/A snv 7
rs200473652
UNC80
0.807 0.200 2 209819105 missense variant G/C snv 1.4E-03 1.6E-03 7
rs886041094
UNC80
0.807 0.200 2 209941379 missense variant G/A snv 1.9E-05 2.1E-05 7
rs201217593
DMD
0.790 0.200 X 31177947 stop gained C/T snv 2.2E-05 2.9E-05 8
rs1554642022
PUF60 ; SCRIB
0.851 0.200 8 143816981 stop gained G/A snv 8
rs140614802
LOC107984670 ; ADSS1
0.851 0.040 14 104741231 missense variant G/A snv 3.4E-05 2.8E-05 10
rs121913378
BRAF
0.776 0.280 7 140753337 missense variant C/A;G;T snv 11
rs137852813
SOS1
0.807 0.200 2 39051202 missense variant A/C;G snv 11
rs140291094
STAC3
0.742 0.320 12 57244322 missense variant C/G snv 9.1E-05 3.8E-04 11
rs886041125
ANKRD11
0.807 0.440 16 89284635 frameshift variant GTTTT/- delins 7.0E-06 12
rs121913528
KRAS
0.851 0.160 12 25227349 missense variant C/A;T snv 12
rs587776917
ECEL1
0.776 0.200 2 232485937 stop gained -/T delins 13
rs267607079
SOS1
0.776 0.240 2 39022772 missense variant C/A;G snv 13
rs1555247672
MED13L
0.827 0.200 12 116007542 stop gained G/A snv 14
rs1060503383
SYNGAP1
0.882 0.200 6 33441318 stop gained C/T snv 14
rs730881014
RIT1
0.776 0.360 1 155904494 stop gained A/C;G;T snv 15