Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs386834061
VPS13B
0.925 0.360 8 99868312 stop gained C/T snv 2.1E-05 10
rs748106387
SMARCAL1
0.851 0.240 2 216415427 stop gained C/A;T snv 2.8E-05 9
rs780261665
COL7A1
0.827 0.200 3 48590258 stop gained G/A snv 2.0E-05 1.4E-05 9
rs797044519
DYRK1A
0.925 21 37478285 stop gained C/A;G;T snv 9
rs1057519338
AMMECR1
0.882 X 110264571 stop gained G/A snv 8
rs1057518791
TRPS1
0.925 0.120 8 115604739 stop gained C/T snv 7
rs771063992
DNAJC21
0.827 0.240 5 34937431 stop gained C/T snv 2.8E-05 2.8E-05 7
rs120074160
SBDS
0.925 7 66994286 stop gained T/A snv 1.7E-04 1.0E-03 6
rs121434616
CUL4B
0.925 0.080 X 120544179 stop gained G/A snv 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
rs1057516034
NIPBL
0.925 0.120 5 37052453 stop gained C/T snv 5
rs1057519324
NPR2
0.925 0.080 9 35801153 stop gained C/T snv 7.0E-06 4
rs189150283
LZTR1
0.925 22 20992304 stop gained C/T snv 6.0E-05 7.0E-05 3
rs137852552
SHOX
1.000 0.080 Y 641037 stop gained C/A;T snv 2
rs1333906033
ZBED4 ; ALG12
22 49883834 stop gained C/T snv 4.0E-06 1
rs141844660
USP45 ; TSTD3
6 99443648 stop gained C/A snv 1.3E-04 1.2E-04 1
rs1565117343
OSBP
11 59594048 stop gained G/A snv 1
rs1569197778
LOC101928692 ; USP51
X 55488927 stop gained G/A snv 1
rs201435914
DPRX
19 53636878 stop gained C/T snv 3.5E-04 3.6E-04 1
rs537353127
VWCE
11 61273265 stop gained G/A;C;T snv 4.0E-06; 4.0E-06; 8.0E-06 1
rs761191483
ITIH6
X 54757697 stop gained G/A;C snv 5.4E-06 1
rs776780438
SLC27A5 ; LOC112268251 ; ZNF446
19 58480401 stop gained G/A snv 8.1E-06 4.9E-05 1
rs984649575
CLIP1
12 122377616 stop gained G/A snv 2.1E-05 1
rs998297769
GABRE
X 151962587 stop gained G/T snv 1.1E-05 2.8E-05 1