Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs761104644
ZNF415
19 53109614 missense variant A/G snv 4.0E-06 2
rs1554208945
ZNF292
0.752 0.240 6 87260207 missense variant A/C snv 26
rs546151500
ZNF142
0.925 0.080 2 218643341 stop gained G/A;T snv 8.0E-06; 4.0E-06 5
rs1447313633
ZNF142
1.000 2 218649090 frameshift variant TT/- del 4
rs1559296368
ZNF142
1.000 2 218646330 frameshift variant C/- del 4
rs34757931
VPS11
0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 26
rs1269252748
VLDLR-AS1 ; VLDLR
9 2641436 missense variant C/T snv 4
rs1553621496
UNC80
0.677 0.440 2 209976305 splice donor variant T/G snv 53
rs1555582065
UBTF ; LOC101926967
0.827 0.160 17 44212851 missense variant C/T snv 13
rs748787734
TUBB4A
0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05 13
rs1569151872
TSPEAR-AS1 ; TSPEAR
0.851 0.240 21 44509225 frameshift variant GAC/AA delins 14
rs139455627
TSPEAR
0.851 0.240 21 44531087 stop gained G/A snv 3.2E-04 2.7E-04 14
rs1182
TOR1A
0.790 0.160 9 129813781 3 prime UTR variant C/A snv 0.17 9
rs1801968
TOR1A
0.827 0.040 9 129818622 missense variant C/G;T snv 0.13; 4.0E-06 7
rs3842225
TOR1A
0.882 0.120 9 129813148 3 prime UTR variant C/- del 0.16 6
rs727502811
TOR1A
0.882 0.080 9 129814108 missense variant C/T snv 9.1E-05 6.3E-05 6
rs142909469
TOR1A
9 129818877 missense variant G/A;C snv 3.0E-04; 4.0E-06 2
rs1476648522
TOR1A
9 129814009 missense variant G/A snv 8.0E-06; 1.2E-05 3.5E-05 2
rs35153737
TOR1A
9 129813558 3 prime UTR variant C/- del 0.14 2
rs80358233
TOR1A
1.000 0.080 9 129814062 inframe deletion CTC/- delins 4.9E-05 2
rs374512193
THAP1
0.925 0.120 8 42838177 missense variant T/C snv 5.2E-05 5.6E-05 4
rs146087734
THAP1
8 42843038 synonymous variant G/A snv 7.6E-05 1.5E-04 2
rs121917763
TH
0.925 0.040 11 2167896 missense variant A/G snv 1.2E-05 7.0E-06 5
rs121917762
TH
0.925 0.040 11 2165727 stop gained G/A;T snv 4.0E-06; 4.0E-06 3
rs771610752
TH
0.925 0.040 11 2168614 stop gained G/A snv 6.2E-05 2.1E-05 3