Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs755820725
AP4S1
14 31066198 start lost T/A;C snv 4.0E-06; 4.0E-06 1
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs387907141
ARID1B
0.752 0.360 6 157181137 stop gained C/T snv 24
rs876657380
ARID1B
0.851 0.360 6 157181155 frameshift variant AA/- delins 11
rs886040958
ARID1B
1.000 0.280 6 157207395 frameshift variant CC/- delins 4
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
rs1554226131
ARID1B
1.000 6 157148899 frameshift variant -/A delins 2
rs1554237848
ARID1B
1.000 6 157207180 stop gained G/A snv 2
rs1554247637
ARID1B
1.000 6 156778646 frameshift variant TGCGAGCGGCGGCC/G delins 2
rs758570139
ARID1B
1.000 6 157181016 stop gained C/G;T snv 2.8E-05 2
rs1554237050
ARID1B
6 157206240 frameshift variant A/- delins 1
rs1556055108
ARX
1.000 X 25013073 stop gained C/A snv 2
rs765530357
ASPM
1.000 1 197101666 stop gained GATAT/- delins 4.0E-06 2
rs1555912285
ASXL1
1.000 20 32435475 frameshift variant TGTTGAGC/CAA delins 3
rs1555912897
ASXL1
1.000 20 32436833 frameshift variant -/G delins 2
rs754129466
ASXL1
1.000 20 32436955 stop gained C/G;T snv 1.2E-04 4.9E-05 2
rs1555912296
ASXL1
20 32435501 frameshift variant G/- delins 1
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins 43
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv 58
rs1555742500
ASXL3
0.925 18 33739379 frameshift variant GACA/- delins 3
rs1555743005
ASXL3
1.000 18 33740445 splice donor variant T/A snv 2