Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1553255501
ACTA1
1 229432792 missense variant A/C snv 1
rs746547282
ADCY5
3 123330888 splice donor variant C/T snv 4.0E-06 7.0E-06 1
rs142209254
AP4B1-AS1 ; AP4B1
1 113896423 stop gained T/A;G snv 4.0E-06; 4.0E-06 1
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
rs1554237050
ARID1B
6 157206240 frameshift variant A/- delins 1
rs1555912296
ASXL1
20 32435501 frameshift variant G/- delins 1
rs797044897
ATP1A3
19 41984940 missense variant T/C snv 1
rs1553845569
CC2D2A
4 15599527 splice acceptor variant A/G snv 1
rs1555951954
CDKL5
X 18604030 frameshift variant AAACCTTGCTGGAG/- delins 1
rs1554603589
CHD7
8 60850623 splice donor variant G/A snv 1
rs1555773554
CIC
19 42294295 frameshift variant -/A delins 1
rs1554767313
CIZ1 ; DNM1
9 128203597 missense variant G/A snv 1
rs1554168326
COL12A1
6 75102015 missense variant C/T snv 1
rs1555573789
COL1A1
17 50194591 frameshift variant AT/- del 1
rs1555302454
COL4A1
13 110170615 missense variant C/T snv 1
rs1555872965
COL6A2
21 46116378 missense variant G/A;T snv 1
rs201618750
COQ8A
1 226986614 stop gained C/A;T snv 8.0E-06; 2.0E-05 1
rs1553632361
CTNNB1
3 41236468 frameshift variant AG/- delins 1
rs1255183431
DDX3X
X 41344238 splice acceptor variant G/C;T snv 1
rs1555954414
DDX3X
X 41347013 splice donor variant G/A snv 1
rs1554879633
EHMT1
9 137778049 frameshift variant -/G delins 1
rs1555905780
EP300
22 41117361 frameshift variant C/- delins 1
rs1555907278
EP300
22 41127646 stop gained C/T snv 1
rs1554852244
FAS
10 89014158 frameshift variant -/CATG delins 1