Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1559662068
BRPF1
0.925 3 9741340 frameshift variant AG/T delins 10
rs724159948
DYRK1A ; LOC105372797
1.000 21 37490273 stop gained C/T snv 7
rs724159953
DYRK1A
1.000 21 37505352 stop gained C/T snv 7
rs724159951
DYRK1A
21 37493101 missense variant T/C snv 6
rs724159952
LOC105372797 ; DYRK1A
21 37490451 frameshift variant -/G delins 6
rs724159954
DYRK1A ; LOC105372797
21 37490353 frameshift variant -/A delins 6
rs724159956
DYRK1A
21 37496249 frameshift variant -/G delins 6
rs1114167294
FOXP4
0.925 6 41587455 frameshift variant T/- del 4
rs1554817910
ZMIZ1
1.000 10 79216266 missense variant A/G snv 4
rs1085307139
SCRIB ; PUF60
0.925 0.040 8 143817380 frameshift variant -/C delins 5
rs1564421528
WAC
0.882 0.080 10 28614666 stop gained C/T snv 16
rs1064795760
BICD2
0.882 0.080 9 92719007 inframe deletion ATT/- del 14
rs1344172059
ABCC8
0.882 0.080 11 17430838 missense variant C/T snv 7.0E-06 12
rs869312823
GNB1
0.882 0.080 1 1806509 missense variant T/C snv 9
rs772037717
FBXL4
0.882 0.080 6 98875675 missense variant A/G snv 1.2E-05 1.4E-05 8
rs1380822792
NAA15
0.882 0.080 4 139336933 frameshift variant CTTGA/- delins 7
rs527624522
EXT2
0.925 0.080 11 44107723 missense variant C/T snv 6.4E-05 2.1E-05 5
rs1554641549
SCRIB ; PUF60
0.925 0.080 8 143816613 frameshift variant TGGCCTTATGA/- delins 3
rs1559931177
QRICH1
0.827 0.120 3 49047207 stop gained G/A snv 34
rs1555257073
POMP
0.827 0.120 13 28672407 frameshift variant AT/- delins 25
rs786200952
KAT6A
0.851 0.120 8 41934340 frameshift variant -/T delins 13
rs1554643142
PUF60
0.925 0.120 8 143818042 frameshift variant CCTGCCCTATGTTGCTGGG/- delins 4
rs1554389088
CAMK2B
0.807 0.160 7 44243526 missense variant G/A snv 27
rs139632595
EXOSC9
0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 19
rs141322087
ABCC8
0.851 0.160 11 17404552 missense variant C/T snv 1.2E-05 2.1E-05 13