Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs797044519
DYRK1A
0.925 21 37478285 stop gained C/A;G;T snv 9
rs797044522
DYRK1A
0.925 21 37496119 frameshift variant AGAT/- delins 9
rs797044523
LOC105372797 ; DYRK1A
0.882 21 37480756 frameshift variant -/A delins 9
rs797044524
LOC105372797 ; DYRK1A
0.925 21 37486513 missense variant A/T snv 9
rs797044525
DYRK1A ; LOC105372797
0.925 21 37490244 missense variant T/G snv 9
rs797044521
LOC105372797 ; DYRK1A
0.925 21 37480768 frameshift variant A/- delins 8
rs1057518921
MED12
1.000 X 71132465 missense variant G/A snv 7
rs1557106484
ATRX
X 77633315 missense variant C/A snv 7
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
rs797044526
DYRK1A ; LOC105372797
0.925 21 37490393 missense variant C/T snv 7
rs120074160
SBDS
0.925 7 66994286 stop gained T/A snv 1.7E-04 1.0E-03 6
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
rs724159955
DYRK1A
1.000 21 37512002 missense variant C/A snv 6
rs724159956
DYRK1A
21 37496249 frameshift variant -/G delins 6
rs1057518821
SLC2A1
1.000 1 42930671 frameshift variant -/C delins 5
rs587779388
AP4B1 ; AP4B1-AS1
1.000 1 113898755 frameshift variant GT/- delins 1.4E-04 1.5E-04 5
rs1057516037
HDAC8
0.925 X 72464626 protein altering variant TGGAG/AC delins 4
rs1558519731
BCL11A
0.925 2 60546204 missense variant C/G snv 4
rs531163149
MTSS2
1.000 16 70664131 missense variant G/A;C snv 1.3E-04; 4.1E-06 4
rs571640983
MFSD2A
0.925 1 39967913 missense variant C/A;T snv 4.0E-06; 8.0E-06 4
rs730882201
ARL14EP
1.000 11 30336665 missense variant G/A snv 4
rs761964407
SERAC1
1.000 6 158114826 frameshift variant -/ATAG delins 1.5E-04 1.5E-04 4