Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs387906846
ARID1A
0.807 0.280 1 26773716 stop gained C/G;T snv 19
rs1558939623
CHN1
0.732 0.480 2 174824479 missense variant C/T snv 19
rs139632595
EXOSC9
0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 19
rs1057518879
PLOD1
0.776 0.280 1 11965571 stop gained G/A snv 19
rs771409809
WFS1
0.732 0.480 4 6301794 stop gained C/T snv 6.0E-05 7.0E-06 19
rs75184679
RNASEH2B
0.776 0.360 13 50945445 missense variant G/A snv 1.4E-03 1.4E-03 16
rs1564421528
WAC
0.882 0.080 10 28614666 stop gained C/T snv 16
rs724159949
LOC105372797 ; DYRK1A
0.827 0.240 21 37486563 stop gained C/T snv 15
rs1064795760
BICD2
0.882 0.080 9 92719007 inframe deletion ATT/- del 14
rs869312824
GNB1
0.827 0.200 1 1804565 missense variant A/G snv 14
rs141322087
ABCC8
0.851 0.160 11 17404552 missense variant C/T snv 1.2E-05 2.1E-05 13
rs786200952
KAT6A
0.851 0.120 8 41934340 frameshift variant -/T delins 13
rs1344172059
ABCC8
0.882 0.080 11 17430838 missense variant C/T snv 7.0E-06 12
rs869025195
RIT1
0.790 0.280 1 155904493 missense variant T/G snv 11
rs1559662068
BRPF1
0.925 3 9741340 frameshift variant AG/T delins 10
rs1563595095
CHD7
0.776 0.320 8 60781285 frameshift variant AA/T delins 10
rs869312823
GNB1
0.882 0.080 1 1806509 missense variant T/C snv 9
rs1085307138
PUF60 ; SCRIB
0.807 0.160 8 143817591 splice donor variant C/T snv 9
rs772037717
FBXL4
0.882 0.080 6 98875675 missense variant A/G snv 1.2E-05 1.4E-05 8
rs1218912272
FLG-AS1 ; FLG
0.925 0.160 1 152314342 stop gained T/A snv 4.0E-06 8
rs724159953
DYRK1A
1.000 21 37505352 stop gained C/T snv 7
rs724159948
DYRK1A ; LOC105372797
1.000 21 37490273 stop gained C/T snv 7
rs1380822792
NAA15
0.882 0.080 4 139336933 frameshift variant CTTGA/- delins 7
rs1057518681
PUF60 ; SCRIB
0.827 0.200 8 143816821 splice acceptor variant T/C snv 7
rs724159951
DYRK1A
21 37493101 missense variant T/C snv 6