Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs878853163
SATB2
0.925 0.200 2 199323850 stop gained T/A;C snv 4
rs1057516031
MTM1
1.000 0.080 X 150598681 stop gained G/T snv 3
rs777593389
VPS13B
1.000 0.320 8 99156693 stop gained C/T snv 4.0E-06 3
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 72
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv 67
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 64
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 58
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv 57
rs61750420
PEX1
0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 52
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 45
rs780533096
MIPEP
0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 44
rs587784347
PLA2G6
0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 38
rs1060505041
NACC1
0.716 0.400 19 13136099 missense variant C/A;T snv 34
rs80338945
GJB2
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04 32
rs66527965
COL1A1
0.763 0.240 17 50193038 missense variant C/A;T snv 31
rs28934907
MECP2
0.732 0.320 X 154032268 missense variant G/A;C snv 30
rs1064795559
MORC2
0.752 0.320 22 30946373 missense variant G/A snv 29
rs34757931
VPS11
0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 26
rs1057519925
PIK3CA
0.683 0.560 3 179210291 missense variant G/A;C snv 25
rs1085307845
PHIP
0.752 0.320 6 79025582 missense variant G/T snv 21
rs12720458
KCNQ1
0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05 20
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv 19
rs139632595
EXOSC9
0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 19