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: rs121913615
rs121913615
MPL
25 0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 0.870 0.875 8 2006 2016
dbSNP: rs121913616
rs121913616
MPL
8 0.790 0.120 1 43349337 missense variant TG/AA mnv 0.810 1.000 3 2006 2009
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.100 0.944 72 2005 2019
dbSNP: rs1131691903
rs1131691903
VPS45
4 0.882 0.160 1 150093558 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs121913614
rs121913614
MPL
7 0.790 0.120 1 43349308 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs201478192
rs201478192
KIDINS220
12 0.790 0.200 2 8731667 missense variant C/A snv 2.4E-04 2.6E-04 0.010 1.000 1 2007 2007
dbSNP: rs879255237
rs879255237
VPS45
7 0.807 0.160 1 150077763 missense variant C/A snv 0.010 1.000 1 2013 2013