Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1567010427
DYNC1H1
0.882 14 102010824 missense variant G/A snv 11
rs1057518834
DMD
X 32849737 frameshift variant C/- delins 9
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
rs1057519338
AMMECR1
0.882 X 110264571 stop gained G/A snv 8
rs797044521
LOC105372797 ; DYRK1A
0.925 21 37480768 frameshift variant A/- delins 8
rs1557106484
ATRX
X 77633315 missense variant C/A 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
rs765498367
LOC105373312 ; AMMECR1
0.925 X 110317643 stop gained A/G;T snv 1.2E-04 2.8E-05 6
rs797044520
DYRK1A
0.925 21 37505442 stop gained C/T snv 6
rs1057516037
HDAC8
0.925 X 72464626 protein altering variant TGGAG/AC delins 4
rs1561002040
LOC107984036 ; RAB33B
1.000 4 139454380 frameshift variant C/- delins 4
rs373730800
SBDS ; TYW1
0.925 7 66995320 missense variant T/C;G snv 6.0E-05 4
rs757167361
DPH1
0.925 17 2030171 missense variant T/A;C;G snv 4
rs189150283
LZTR1
0.925 22 20992304 stop gained C/T snv 6.0E-05 7.0E-05 3
rs1158061584
N4BP2L2
13 32443086 frameshift variant T/-;TT delins 1
rs1230432769
OTUD5 ; KCND1
X 48962751 missense variant G/A snv 2.9E-05 1
rs1259852690
FBRS
16 30669598 missense variant C/G snv 4.2E-06 2.8E-05 1
rs1297383239
POLR2E
19 1091909 splice acceptor variant T/C snv 4.0E-06 1
rs1333906033
ZBED4 ; ALG12
22 49883834 stop gained C/T snv 4.0E-06 1
rs1363884891
CEP76 ; PSMG2
18 12673471 missense variant C/T snv 7.0E-06 1