Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs797044947
COL4A2-AS1 ; COL4A2
1.000 13 110503855 missense variant G/A snv 7.0E-06 2
rs786205232
KCNA2
0.925 0.040 1 110603893 missense variant C/T snv 4.0E-06 5
rs267607048
SHOC2
0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 16
rs398122394
ALG13
0.763 0.240 X 111685040 missense variant A/G snv 17
rs1559759089
ATP6V1A
0.827 0.200 3 113795101 missense variant C/A snv 14
rs142209254
AP4B1-AS1 ; AP4B1
1 113896423 stop gained T/A;G snv 4.0E-06; 4.0E-06 1
rs587779388
AP4B1 ; AP4B1-AS1
1.000 1 113898755 frameshift variant GT/- delins 1.4E-04 1.5E-04 5
rs149705131
AP4B1 ; AP4B1-AS1
1 113901236 missense variant C/T snv 1.6E-05 1
rs1553259463
AP4B1
1.000 1 113901815 stop gained GACAT/- delins 2
rs1555721837
CCDC151
1.000 19 11423933 stop gained G/A snv 2
rs782397980
CHAMP1
1.000 13 114325331 stop gained C/G;T snv 1.2E-05 2
rs1555379911
CHAMP1
1.000 13 114325794 stop gained C/G snv 2
rs1554412300
FOXP2
7 114534645 stop gained T/G snv 1
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv 56
rs1555239936
MED13L
12 115963489 stop gained G/A snv 1
rs1555247469
MED13L
1.000 12 116006413 splice acceptor variant T/C snv 2
rs1555248020
MED13L
1.000 12 116009052 stop gained G/C snv 3
rs1431337923
SLC18A2
10 117255595 splice region variant AG/- delins 4.0E-06 1
rs1293033867
SLC18A2
10 117255657 missense variant G/C snv 1
rs1555907215
MSL3
1.000 X 11768608 frameshift variant C/- delins 2
rs1555036394
KMT2A
1.000 11 118473352 frameshift variant A/- del 2
rs1555036436
KMT2A
1.000 11 118473420 frameshift variant C/- delins 2
rs782297546
KMT2A
0.925 0.240 11 118473471 frameshift variant C/-;CC delins 5
rs1555039242
KMT2A
1.000 11 118481728 frameshift variant GA/- delins 2
rs886041896
KMT2A
1.000 11 118494360 stop gained A/T snv 2