Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555303073
COL4A1
0.851 0.120 13 110176912 missense variant C/T snv 6
rs886041239
SMC3
1.000 0.160 10 110593202 missense variant A/G snv 9
rs1569459580
PAK3
1.000 0.120 X 111196503 missense variant G/A snv 2
rs1561515242
CAMK4
1.000 0.080 5 111482938 splice donor variant G/A snv 6
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv 39
rs778909076
LARP7
4 112657243 splice acceptor variant GTTA/- delins 1.4E-05 1
rs1135401765
MED13L
1.000 12 115982386 stop gained G/A snv 2
rs1555243059
MED13L
1.000 12 115982406 frameshift variant AT/- delins 2
rs1555243582
MED13L
1.000 12 115984259 frameshift variant A/- delins 2
rs1135401766
MED13L
1.000 12 116005938 frameshift variant -/A delins 2
rs1563686762
RAD21 ; UTP23
0.790 0.280 8 116847620 inframe deletion GTT/- delins 16
rs1555906707
MSL3
X 11765481 missense variant T/C snv 1
rs1555906768
MSL3
X 11765594 stop gained C/T snv 1
rs1555906781
MSL3
X 11765622 frameshift variant TG/- delins 1
rs1555907620
MSL3
X 11772246 stop gained C/T snv 1
rs1555907623
MSL3
X 11772247 frameshift variant ATTGTTTG/- delins 1
rs1555907626
MSL3
X 11772256 splice donor variant G/T snv 1
rs1555907653
MSL3
X 11772674 frameshift variant -/C delins 1
rs1555907864
MSL3
X 11775029 frameshift variant GC/A delins 1
rs1565278132
KMT2A
11 118471919 frameshift variant A/-;AA delins 1
rs1135401764
KMT2A
1.000 0.240 11 118476983 splice donor variant G/A snv 2
rs1057519408
KMT2A
1.000 0.240 11 118499340 frameshift variant TTGT/- delins 2
rs1057519403
KMT2A
1.000 0.240 11 118499835 missense variant G/A snv 2
rs730882211
SEC24D
1.000 0.040 4 118815132 missense variant C/G snv 2
rs121434616
CUL4B
0.925 0.080 X 120544179 stop gained G/A snv 6