Source: CURATED ×
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
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
rs1057518770
SNHG14 ; UBE3A
1.000 15 25354536 missense variant C/T snv 6
rs542652468
ATP1A3
0.882 19 41986177 missense variant G/A;T snv 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
rs797044520
DYRK1A
0.925 21 37505442 stop gained C/T snv 6
rs1057518821
SLC2A1
1.000 1 42930671 frameshift variant -/C delins 5
rs1189909394
KCNK4-TEX40 ; KCNK4
11 64298178 missense variant G/A;C snv 7.0E-06 5
rs1554776954
STXBP1
1.000 9 127661133 frameshift variant A/- delins 5
rs1565369746
KCNK4-TEX40 ; KCNK4
11 64297507 missense variant C/A snv 5
rs1568925507
KCNQ2
1.000 20 63438654 inframe insertion -/TCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTC delins 5
rs397514452
ADK
1.000 10 74670258 missense variant C/A;T snv 8.0E-06; 4.0E-06 5
rs879255368
ATP1A3
19 41984953 missense variant C/G;T snv 5