Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs724159954
DYRK1A ; LOC105372797
21 37490353 frameshift variant -/A delins 6
rs724159956
DYRK1A
21 37496249 frameshift variant -/G delins 6
rs724159951
DYRK1A
21 37493101 missense variant T/C snv 6
rs724159952
LOC105372797 ; DYRK1A
21 37490451 frameshift variant -/G delins 6
rs797044520
DYRK1A
0.925 21 37505442 stop gained C/T snv 6
rs542652468
ATP1A3
0.882 19 41986177 missense variant G/A;T snv 6
rs1057518770
SNHG14 ; UBE3A
1.000 15 25354536 missense variant C/T snv 6
rs1057518962
DMD
X 32573812 stop gained C/A;G;T snv 5.5E-06; 5.5E-06 6
rs120074160
SBDS
0.925 7 66994286 stop gained T/A snv 1.7E-04 1.0E-03 6
rs765498367
LOC105373312 ; AMMECR1
0.925 X 110317643 stop gained A/G;T snv 1.2E-04 2.8E-05 6
rs1057518886
HMBS
11 119090043 frameshift variant C/- delins 5
rs1057519430
DDX3X
0.925 X 41346946 missense variant C/T snv 5
rs1057516038
KIAA0586
0.925 14 58444158 stop gained C/A;T snv 5
rs879255368
ATP1A3
19 41984953 missense variant C/G;T snv 5
rs1057518821
SLC2A1
1.000 1 42930671 frameshift variant -/C delins 5
rs1562931936
KMT2E
1.000 7 105107527 stop gained C/T snv 5
rs1565922395
SYT1
0.925 12 79353602 missense variant A/G snv 5
rs1565962725
SYT1
0.925 12 79448953 missense variant C/A snv 5
rs144900171
SYT1
0.925 12 79448968 missense variant C/G;T snv 1.3E-04 6.2E-04 5
rs1565922388
SYT1
0.925 12 79353599 missense variant T/A snv 5
rs1555452876
PKD1 ; MIR6511B1
1.000 16 2106222 inframe deletion CTC/- delins 5
rs587779388
AP4B1 ; AP4B1-AS1
1.000 1 113898755 frameshift variant GT/- delins 1.4E-04 1.5E-04 5
rs1175052474
COL4A3 ; MFF-DT
1.000 2 227295295 inframe insertion -/AGG delins 7.0E-06 5
rs1565369746
KCNK4-TEX40 ; KCNK4
11 64297507 missense variant C/A snv 5
rs1568925507
KCNQ2
1.000 20 63438654 inframe insertion -/TCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTC delins 5