Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs140614802
LOC107984670 ; ADSS1
0.851 0.040 14 104741231 missense variant G/A snv 3.4E-05 2.8E-05 10
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
rs1559931177
QRICH1
0.827 0.120 3 49047207 stop gained G/A snv 34
rs1554442015
TWIST1
0.851 0.120 7 19116970 missense variant G/C snv 5
rs1060499549
ZNF462
0.882 0.120 9 106927699 stop gained C/T snv 4
rs368900406
MPV17
0.827 0.160 2 27312255 non coding transcript exon variant A/C snv 8.0E-06 2.1E-05 27
rs1554768245
SYNE1
0.807 0.160 6 152472395 frameshift variant C/- delins 16
rs121913528
KRAS
0.851 0.160 12 25227349 missense variant C/A;T snv 12
rs863224880
IGHMBP2
0.925 0.160 11 68906074 stop gained G/A snv 7
rs118192177
RYR1
0.851 0.160 19 38496283 missense variant C/G;T snv 2.0E-05 6
rs397517148
SOS1
0.776 0.200 2 39023128 missense variant C/T snv 27
rs1555429629
RAD51
0.763 0.200 15 40729632 missense variant G/A snv 23
rs1060503383
SYNGAP1
0.882 0.200 6 33441318 stop gained C/T snv 14
rs1555247672
MED13L
0.827 0.200 12 116007542 stop gained G/A snv 14
rs587776917
ECEL1
0.776 0.200 2 232485937 stop gained -/T delins 13
rs137852813
SOS1
0.807 0.200 2 39051202 missense variant A/C;G snv 11
rs1554642022
PUF60 ; SCRIB
0.851 0.200 8 143816981 stop gained G/A snv 8
rs201217593
DMD
0.790 0.200 X 31177947 stop gained C/T snv 2.2E-05 2.9E-05 8
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
rs146539065
SEPSECS
0.752 0.240 4 25145092 synonymous variant C/T snv 2.8E-05 4.2E-05 34
rs776969714
SEPSECS
0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 34
rs1331463984
TRAF7
0.701 0.240 16 2176350 missense variant G/A snv 33
rs758361736
KIF7
0.776 0.240 15 89649836 missense variant T/G snv 1.3E-05 1.4E-05 16