Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1182326570
FBXL4
0.925 6 98926883 stop gained T/A snv 8.0E-06 3
rs120074152
VPS13B
0.925 0.320 8 99384294 stop gained C/T snv 4.0E-06 7.0E-06 3
rs1242562412
ERBB2 ; PGAP3
1.000 17 39687906 stop gained C/A snv 2.1E-05 3
rs1313319892
POGZ
1.000 1 151406306 stop gained G/A;T snv 7.0E-06 3
rs147334255
MN1
1.000 22 27750995 stop gained G/A snv 3
rs1553212545
POGZ
1.000 1 151406046 stop gained G/A snv 3
rs1554117456
CPLANE1
1.000 5 37245569 stop gained C/A snv 3
rs1554139771
MEF2C
5 88804732 stop gained CA/- delins 3
rs1554237658
ARID1B
0.925 0.280 6 157206917 stop gained C/T snv 3
rs1554256703
ARID1B
0.925 0.280 6 156829302 stop gained C/T snv 3
rs1554708787
PTCH1
1.000 9 95506567 stop gained C/T snv 3
rs1554944527
DEAF1
1.000 11 687999 stop gained G/T snv 3
rs1555248020
MED13L
1.000 12 116009052 stop gained G/C snv 3
rs1555254256
SACS
1.000 13 23354906 stop gained C/T snv 3
rs1555926209
TCF20
1.000 22 42213082 stop gained G/A snv 3
rs1556019107
PHF6
1.000 X 134415106 stop gained C/T snv 3
rs201889294
FBXL4
0.925 6 98899282 stop gained G/A;T snv 4.0E-05 3
rs372754256
FLG ; FLG-AS1
1.000 1 152307855 stop gained G/C snv 4.7E-04 9.8E-05 3
rs587783690
KMT2D
0.925 0.120 12 49031255 stop gained G/A snv 3
rs587784570
ZEB2
0.925 0.280 2 144401292 stop gained G/A;C snv 4.0E-06 3
rs765191836
SRD5A3-AS1 ; SRD5A3
1.000 4 55367628 stop gained G/A;T snv 4.0E-06 3
rs773157352
OTX2
1.000 14 56804235 stop gained G/A;T snv 8.0E-06 3
rs781768965
PTCH1
1.000 9 95508175 stop gained C/A;G snv 4.0E-06 3
rs797044863
ZC4H2
1.000 X 64921894 stop gained G/A snv 3
rs878854324
TTN ; TTN-AS1
0.925 0.160 2 178589804 stop gained G/A;T snv 4.0E-06 3