Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1556026984
HPRT1
0.925 0.120 X 134475194 missense variant G/C snv 4
rs387906725
HPRT1
0.882 0.160 X 134475189 missense variant G/A snv 3
rs137852485
HPRT1
0.925 0.120 X 134475358 missense variant C/A snv 2
rs137852489
HPRT1
0.925 0.160 X 134486471 stop gained C/A;T snv 2.4E-05 2
rs137852494
HPRT1
0.925 0.160 X 134475197 stop gained C/G;T snv 2
rs137852495
HPRT1
0.925 0.120 X 134475216 missense variant T/C snv 2
rs137852497
HPRT1
0.925 0.200 X 134498412 stop gained C/A;T snv 4.4E-05 2
rs1556030169
HPRT1
0.925 0.160 X 134498683 frameshift variant -/T delins 2
rs369065223
HPRT1
0.925 0.160 X 134486514 stop gained C/G;T snv 5.5E-06 2
rs1135401801
HPRT1
1.000 0.120 X 134473378 missense variant G/T snv 1
rs1228634091
HPRT1
1.000 0.120 X 134475225 missense variant A/G snv 1.1E-05 1
rs137852477
HPRT1
1.000 0.120 X 134490199 missense variant T/G snv 1
rs137852478
HPRT1
1.000 0.120 X 134475285 missense variant A/T snv 1
rs137852479
HPRT1
1.000 0.120 X 134498677 missense variant A/G snv 1
rs137852480
HPRT1
1.000 0.120 X 134473453 missense variant T/C snv 1
rs137852481
HPRT1
1.000 0.120 X 134475268 missense variant C/A snv 1
rs137852482
HPRT1
1.000 0.120 X 134486475 missense variant C/T snv 1
rs137852483
HPRT1
1.000 0.120 X 134490192 missense variant T/A snv 1
rs137852484
HPRT1
1.000 0.120 X 134493586 missense variant G/T snv 1
rs137852486
HPRT1
1.000 0.120 X 134498670 missense variant T/G snv 1
rs137852487
HPRT1
1.000 0.120 X 134475255 missense variant G/A snv 1
rs137852488
HPRT1
1.000 0.120 X 134475257 missense variant G/C snv 1
rs137852490
HPRT1
1.000 0.120 X 134500030 missense variant C/G snv 1
rs137852491
HPRT1
1.000 0.120 X 134473465 missense variant G/A snv 4.4E-05 1
rs137852492
HPRT1
1.000 0.120 X 134498433 missense variant G/T snv 1