Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057518950
TPO
0.851 0.280 2 1484815 missense variant C/T snv 7
rs121908085
TPO
1.000 0.120 2 1503956 missense variant G/A snv 8.0E-06 4.9E-05 1
rs121908087
TPO
1.000 0.120 2 1496059 missense variant C/T snv 8.0E-06 7.0E-06 1
rs121908086
TPO
0.925 0.120 2 1493976 missense variant G/A snv 1.2E-05 7.0E-06 1
rs763662774
TPO
1.000 0.120 2 1503983 frameshift variant T/- del 8.4E-05 9.8E-05 1
rs121908084
TPO
1.000 0.120 2 1487991 missense variant G/A;C snv 1
rs121908088
TPO
0.925 0.160 2 1494011 stop gained C/G;T snv 3.2E-04 1
rs760307139
TPO
1.000 0.120 2 1503976 frameshift variant C/-;CC delins 7.1E-06 1
rs763941231
TPO
1.000 0.120 2 1477447 frameshift variant -/GCCG delins 4.9E-04 6.0E-04 1
rs140124953
TPO
1.000 0.120 2 1494027 missense variant G/A;C snv 2.8E-05 1
rs121908083
TPO
0.925 0.120 2 1484614 missense variant T/G snv 1.0E-04 1.3E-04 1
rs121908082
TPO
0.925 0.120 2 1487841 stop gained C/A;G;T snv 4.0E-06; 4.0E-06; 1.2E-05 1
rs104893669
TPO
1.000 0.120 2 1484596 missense variant A/G;T snv 1
rs1558307375
TPO
1.000 0.120 2 1456222 frameshift variant -/G delins 1