Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs368869806
PTCH1
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 97
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv 58
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs752298579
TANGO2
0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 48
rs780533096
MIPEP
0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 44
rs587782995
PURA
0.708 0.360 5 140114480 missense variant T/C snv 42
rs1559931177
QRICH1
0.827 0.120 3 49047207 stop gained G/A snv 34
rs1557781252
GATAD2B
0.742 0.320 1 153816414 stop gained G/A snv 33
rs267607261
MPV17
0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06 28
rs368900406
MPV17
0.827 0.160 2 27312255 non coding transcript exon variant A/C snv 8.0E-06 2.1E-05 27
rs1057518083
DYNC1H1
0.851 0.120 14 101986552 missense variant C/T snv 21
rs587784177
NSD1
0.790 0.280 5 177283827 missense variant G/A snv 20
rs1565930588
HSPB8
0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del 19
rs724159949
LOC105372797 ; DYRK1A
0.827 0.240 21 37486563 stop gained C/T snv 15
rs1057518848
TCF4
0.827 0.240 18 55229003 frameshift variant -/ATTG delins 15
rs797044519
DYRK1A
0.925 21 37478285 stop gained C/A;G;T snv 9
rs797044522
DYRK1A
0.925 21 37496119 frameshift variant AGAT/- delins 9
rs797044525
DYRK1A ; LOC105372797
0.925 21 37490244 missense variant T/G snv 9
rs797044524
LOC105372797 ; DYRK1A
0.925 21 37486513 missense variant A/T snv 9
rs776095655
SLC2A1
0.827 0.160 1 42927684 missense variant C/A;T snv 4.0E-06 8
rs886041287
TTN ; TTN-AS1
0.882 0.160 2 178535594 frameshift variant -/GT delins 8
rs797044526
DYRK1A ; LOC105372797
0.925 21 37490393 missense variant C/T snv 7
rs1057519437
EBF3
0.851 0.240 10 129957300 missense variant C/T snv 6
rs1565091862
KCNMA1-AS1 ; KCNMA1
0.925 0.160 10 76944829 missense variant T/C snv 4