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: rs121913614
rs121913614
MPL
7 0.790 0.120 1 43349308 missense variant G/A snv 0.710 1.000 4 2008 2013
dbSNP: rs1057519752
rs1057519752
MPL
1 1.000 0.080 1 43349307 missense variant A/C;G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs121913615
rs121913615
MPL
25 0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 0.100 1.000 10 2008 2018
dbSNP: rs121913616
rs121913616
MPL
8 0.790 0.120 1 43349337 missense variant TG/AA mnv 0.020 1.000 2 2008 2009
dbSNP: rs17292650
rs17292650
MPL
3 0.882 0.120 1 43338136 missense variant G/T snv 3.5E-03 1.4E-02 0.010 1.000 1 2004 2004