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: rs767475870
rs767475870
TET2 ; TET2-AS1
1 1.000 0.040 4 105276203 missense variant C/T snv 0.700 0
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.050 0.800 5 2007 2018
dbSNP: rs121912657
rs121912657
TP53
24 0.683 0.480 17 7673806 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs121913616
rs121913616
MPL
8 0.790 0.120 1 43349337 missense variant TG/AA mnv 0.010 1.000 1 2009 2009
dbSNP: rs1328906812
rs1328906812
CBL
1 1.000 0.040 11 119278530 missense variant T/G snv 0.010 1.000 1 2011 2011
dbSNP: rs267606705
rs267606705
CBL
2 0.925 0.040 11 119278214 missense variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs373221034
rs373221034
ASXL1
4 0.851 0.080 20 32434789 stop gained C/T snv 4.0E-06 2.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs756530482
rs756530482
CBL
1 1.000 0.040 11 119278525 missense variant G/A snv 4.0E-06 0.010 1.000 1 2011 2011