Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1569513017
ATRX
1.000 X 77508625 frameshift variant A/- del 1
rs1325951163
BRAF
1.000 7 140801517 missense variant C/G;T snv 4.0E-06 1
rs574384755
EEF1A2
1.000 20 63490507 missense variant G/A snv 4.1E-06 1
rs1200336864
TASP1
1.000 20 13625199 stop gained G/A snv 4.0E-06 1
rs1060499738
ACTL6B
1.000 7 100647014 missense variant C/T snv 7.0E-06 2
rs1564069651
AGTPBP1
1.000 9 85619123 missense variant T/C snv 2
rs1060499744
ASH2L
1.000 8 38138822 missense variant A/G snv 2
rs1060499759
ATRX
1.000 X 77688879 missense variant A/T snv 2
rs1060499760
ATRX
1.000 X 77683580 missense variant G/A snv 2
rs745561217
CDK20
1.000 9 87969873 missense variant A/G snv 1.6E-05 7.0E-06 2
rs561330579
CELSR2
1.000 1 109258951 missense variant C/G;T snv 7.3E-05 2
rs1060499739
CEP97
1.000 3 101757754 missense variant A/G snv 2
rs730882217
CPLANE1
0.925 5 37153962 frameshift variant TC/- del 2
rs1057518789
CREBBP
0.925 0.040 16 3728803 stop gained G/A snv 2
rs1560212751
DOCK3
1.000 3 51208772 splice acceptor variant A/G snv 2
rs1560414254
DOCK3
1.000 3 51312486 frameshift variant ACTT/- delins 2
rs1057518932
EFTUD2
1.000 17 44855003 missense variant T/A snv 2
rs771882905
KAT14
1.000 20 18162673 missense variant G/A snv 2.0E-05 2.8E-05 2
rs1131692268
KMT2A
0.925 0.240 11 118504037 frameshift variant A/- delins 2
rs1057518699
LAS1L
0.925 0.200 X 65524113 missense variant G/A snv 2
rs1310897090
NBAS
1.000 2 15467394 stop gained G/A snv 2
rs730882216
NUP107
1.000 12 68690746 start lost G/A snv 4.0E-06 2
rs757533393
POFUT1
1.000 20 32216664 missense variant C/G;T snv 1.2E-05 2
rs138076291
PTPN23
0.925 0.040 3 47410284 missense variant C/T snv 8.4E-06 1.4E-05 2
rs147293860
PTPN23
0.925 0.040 3 47409268 missense variant A/C;G snv 4.0E-06; 8.0E-05 2