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
6 0.801 0.107 1 43349308 missense variant G/A snp 0.720 1.000 5 2008 2014
dbSNP: rs202080221
rs202080221
1 1.000 0.036 12 111418767 stop gained G/C,T snp 1.1E-03 5.8E-04 0.700 1 2010 2010
dbSNP: rs77375493
rs77375493
106 0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04 0.100 0.975 118 2005 2018
dbSNP: rs121913615
rs121913615
MPL
15 0.734 0.179 1 43349338 missense variant G/C,T snp 8.0E-06 0.060 1.000 6 2008 2014
dbSNP: rs121913616
rs121913616
MPL
6 0.821 0.107 1 43349337 missense variant TG/AA multinucleotide-polymorphism 0.030 1.000 3 2010 2016
dbSNP: rs10815148
rs10815148
3 0.878 0.071 9 5057284 intron variant T/A snp 0.33 0.010 1.000 1 2008 2008
dbSNP: rs10974947
rs10974947
3 0.878 0.071 9 5072846 intron variant G/A snp 0.24 0.010 < 0.001 1 2008 2008
dbSNP: rs12342421
rs12342421
3 0.878 0.071 9 5065750 intron variant G/C snp 0.24 0.010 1.000 1 2008 2008
dbSNP: rs12343867
rs12343867
5 0.846 0.143 9 5074189 intron variant T/C snp 0.26 0.010 1.000 1 2010 2010
dbSNP: rs141311765
rs141311765
MPL
1 1.000 0.036 1 43340027 missense variant T/C snp 3.4E-04 8.6E-04 0.010 1.000 1 2012 2012
dbSNP: rs1800562
rs1800562
175 0.463 0.714 6 26092913 missense variant G/A snp 3.3E-02 3.8E-02 0.010 1.000 1 2002 2002
dbSNP: rs2736100
rs2736100
52 0.596 0.571 5 1286401 intron variant C/A snp 0.53 0.010 1.000 1 2016 2016
dbSNP: rs318699
rs318699
3 0.878 0.071 19 11390564 intron variant A/G snp 0.72 0.010 < 0.001 1 2008 2008
dbSNP: rs3808850
rs3808850
2 0.923 0.071 9 4983311 intergenic variant T/A,C snp 0.29 0.010 < 0.001 1 2008 2008
dbSNP: rs397507444
rs397507444
169 0.457 0.714 1 11794407 missense variant T/G snp 0.010 1.000 1 2014 2014
dbSNP: rs562533120
rs562533120
2 0.923 0.071 6 134966397 missense variant A/C snp 8.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs7046736
rs7046736
2 0.923 0.071 9 5015732 intron variant C/A snp 0.39 0.010 1.000 1 2008 2008
dbSNP: rs9376092
rs9376092
9 0.878 0.107 6 135106006 intergenic variant C/A snp 0.26 0.010 1.000 1 2016 2016