Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554641549
SCRIB ; PUF60
0.925 0.080 8 143816613 frameshift variant TGGCCTTATGA/- delins 3
rs1114167294
FOXP4
0.925 6 41587455 frameshift variant T/- del 4
rs1554643142
PUF60
0.925 0.120 8 143818042 frameshift variant CCTGCCCTATGTTGCTGGG/- delins 4
rs397517159
SOS1
0.882 0.200 2 39007168 missense variant C/T snv 4
rs1554817910
ZMIZ1
1.000 10 79216266 missense variant A/G snv 4
rs527624522
EXT2
0.925 0.080 11 44107723 missense variant C/T snv 6.4E-05 2.1E-05 5
rs1085307132
SCRIB ; PUF60
0.882 0.160 8 143817668 frameshift variant -/TTTT delins 5
rs1085307139
SCRIB ; PUF60
0.925 0.040 8 143817380 frameshift variant -/C delins 5
rs724159951
DYRK1A
21 37493101 missense variant T/C snv 6
rs724159956
DYRK1A
21 37496249 frameshift variant -/G delins 6
rs724159950
DYRK1A ; LOC105372797
1.000 0.200 21 37486571 frameshift variant TGAG/GAA delins 6
rs724159954
DYRK1A ; LOC105372797
21 37490353 frameshift variant -/A delins 6
rs724159952
LOC105372797 ; DYRK1A
21 37490451 frameshift variant -/G delins 6
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
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
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
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
rs869025195
RIT1
0.790 0.280 1 155904493 missense variant T/G snv 11
rs1344172059
ABCC8
0.882 0.080 11 17430838 missense variant C/T snv 7.0E-06 12