Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121908088
rs121908088
TPO
2 0.925 0.160 2 1494011 stop gained C/G;T snv 3.2E-04 0.800 1.000 20 1995 2016
dbSNP: rs121908085
rs121908085
TPO
1 1.000 0.120 2 1503956 missense variant G/A snv 8.0E-06 4.9E-05 0.800 1.000 18 1995 2016
dbSNP: rs104893669
rs104893669
TPO
1 1.000 0.120 2 1484596 missense variant A/G;T snv 0.800 1.000 17 1995 2016
dbSNP: rs121908083
rs121908083
TPO
2 0.925 0.120 2 1484614 missense variant T/G snv 1.0E-04 1.3E-04 0.800 1.000 17 1995 2016
dbSNP: rs121908084
rs121908084
TPO
1 1.000 0.120 2 1487991 missense variant G/A;C snv 0.800 1.000 17 1995 2016
dbSNP: rs121908086
rs121908086
TPO
2 0.925 0.120 2 1493976 missense variant G/A snv 1.2E-05 7.0E-06 0.800 1.000 17 1995 2016
dbSNP: rs121908087
rs121908087
TPO
1 1.000 0.120 2 1496059 missense variant C/T snv 8.0E-06 7.0E-06 0.800 1.000 17 1995 2016
dbSNP: rs1035791118
rs1035791118
TPO
1 1.000 0.120 2 1477563 missense variant G/A snv 1.4E-05 0.700 1.000 17 1995 2016
dbSNP: rs1231870370
rs1231870370
TPO
1 1.000 0.120 2 1484630 missense variant T/C snv 4.0E-06 0.700 1.000 17 1995 2016
dbSNP: rs1297312788
rs1297312788
TPO
1 1.000 0.120 2 1477398 missense variant G/A snv 8.2E-06 0.700 1.000 17 1995 2016
dbSNP: rs138931129
rs138931129
TPO
1 1.000 0.120 2 1496690 missense variant G/A snv 1.2E-05 2.1E-05 0.700 1.000 17 1995 2016
dbSNP: rs1427024341
rs1427024341
TPO
1 1.000 0.120 2 1456181 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.700 1.000 17 1995 2016
dbSNP: rs146351101
rs146351101
TPO
1 1.000 0.120 2 1504076 missense variant G/A snv 6.0E-05 2.1E-05 0.700 1.000 17 1995 2016
dbSNP: rs371367459
rs371367459
TPO
1 1.000 0.120 2 1477242 missense variant G/A snv 8.5E-06 1.4E-05 0.700 1.000 17 1995 2016
dbSNP: rs776742629
rs776742629
TPO
1 1.000 0.120 2 1494026 missense variant C/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 17 1995 2016
dbSNP: rs778515113
rs778515113
TPO
1 1.000 0.120 2 1484734 missense variant G/A;T snv 5.6E-05 0.700 1.000 17 1995 2016
dbSNP: rs763941231
rs763941231
TPO
1 1.000 0.120 2 1477447 frameshift variant -/GCCG delins 4.9E-04 6.0E-04 0.700 1.000 5 1992 2016
dbSNP: rs763662774
rs763662774
TPO
1 1.000 0.120 2 1503983 frameshift variant T/- del 8.4E-05 9.8E-05 0.700 1.000 4 2000 2014
dbSNP: rs140124953
rs140124953
TPO
1 1.000 0.120 2 1494027 missense variant G/A;C snv 2.8E-05 0.700 1.000 2 2002 2003
dbSNP: rs1169072188
rs1169072188
TPO
1 1.000 0.120 2 1484753 missense variant C/T snv 8.0E-06 4.2E-05 0.700 0
dbSNP: rs1173922703
rs1173922703
TPO
1 1.000 0.120 2 1477501 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs121908082
rs121908082
TPO
2 0.925 0.120 2 1487841 stop gained C/A;G;T snv 4.0E-06; 4.0E-06; 1.2E-05 0.700 0
dbSNP: rs1558307375
rs1558307375
TPO
1 1.000 0.120 2 1456222 frameshift variant -/G delins 0.700 0
dbSNP: rs201165648
rs201165648
TPO
1 1.000 0.120 2 1484729 missense variant G/A snv 4.0E-05 7.7E-05 0.700 0
dbSNP: rs760307139
rs760307139
TPO
1 1.000 0.120 2 1503976 frameshift variant C/-;CC delins 7.1E-06 0.700 0