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
rs1057518939
VPS13B
1.000 0.040 8 99511424 frameshift variant A/- del 9
rs1562456317
USP45 ; TSTD3
6 99508705 missense variant A/C snv 1
rs1562391520
USP45 ; TSTD3
6 99482871 missense variant C/T snv 1
rs1562308994
TSTD3 ; USP45
6 99446205 missense variant T/C snv 1
rs141844660
USP45 ; TSTD3
6 99443648 stop gained C/A snv 1.3E-04 1.2E-04 1
rs368869806
PTCH1
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 97
rs1563765580
RUNX1T1
8 92017274 frameshift variant -/A ins 1
rs1400419650
TRIP11
0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05 38
rs1555386022
TRIP11
0.708 0.320 14 92003418 splice donor variant C/A snv 38
rs267606959
POLG
0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05 15
rs879253753
ANKRD11
0.851 0.280 16 89280526 frameshift variant -/T delins 19
rs775707132
GPR78 ; CPZ
4 8612120 missense variant G/A;T snv 1.6E-05; 2.0E-05 1
rs375633720
CPZ ; GPR78
4 8601494 missense variant C/T snv 2.8E-05 4.2E-05 1
rs1553154130
RERE
0.807 0.280 1 8358231 missense variant T/A;C snv 18
rs1441937959
EFL1
0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06 19
rs312262690
ANTXR2
0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 28
rs531047390
NRXN3
1.000 0.120 14 78968349 splice region variant A/G snv 2.0E-04 2.1E-05 2
rs1057519451
NRXN3 ; LOC105370589
1.000 0.120 14 78709310 missense variant A/G snv 1.4E-05 2
rs768564744
DNAH17
17 78525107 missense variant C/G;T snv 4.0E-06; 4.0E-05 1
rs763505389
DNAH17 ; DNAH17-AS1
17 78491549 missense variant C/T snv 1.6E-05 7.0E-06 1
rs1557106484
ATRX
X 77633315 missense variant C/A snv 7
rs1555377415
IRF2BPL ; LOC107984638
0.827 0.200 14 77027274 stop gained G/C snv 18
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 37
rs1567499068
SCAPER
0.882 0.160 15 76574190 frameshift variant G/- delins 6