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: rs562533120
rs562533120
3 0.882 0.080 6 134966397 missense variant A/C snv 8.0E-06 0.020 1.000 2 2015 2018
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs121913454
rs121913454
2 0.925 0.080 9 130874969 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs17576
rs17576
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.010 < 0.001 1 2015 2015
dbSNP: rs318699
rs318699
3 0.882 0.080 19 11390564 intron variant A/G snv 0.73 0.010 1.000 1 2008 2008
dbSNP: rs201478192
rs201478192
12 0.790 0.200 2 8731667 missense variant C/A snv 2.4E-04 2.6E-04 0.050 1.000 5 2009 2015
dbSNP: rs2736100
rs2736100
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.030 1.000 3 2015 2018
dbSNP: rs9376092
rs9376092
10 0.851 0.120 6 135106006 upstream gene variant C/A snv 0.24 0.020 1.000 2 2015 2018
dbSNP: rs7046736
rs7046736
2 0.925 0.080 9 5015732 intron variant C/A snv 0.39 0.010 1.000 1 2008 2008
dbSNP: rs1057520016
rs1057520016
5 0.851 0.080 9 5089726 missense variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs770166362
rs770166362
MPL
1 1.000 0.040 1 43349298 missense variant C/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs750046020
rs750046020
MPL
6 0.827 0.080 1 43338646 missense variant C/G;T snv 8.0E-06; 8.0E-05 0.700 1.000 2 2009 2015
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs552479055
rs552479055
1 1.000 0.040 10 113726306 missense variant C/T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs78894077
rs78894077
1 1.000 0.040 12 111418869 missense variant C/T snv 2.7E-03 1.2E-03 0.010 1.000 1 2016 2016
dbSNP: rs587778514
rs587778514
MPL
2 0.925 0.080 1 43338564 frameshift variant CT/- del 5.2E-05 4.9E-05 0.700 1.000 2 2001 2007
dbSNP: rs121913614
rs121913614
MPL
7 0.790 0.120 1 43349308 missense variant G/A snv 0.030 1.000 3 2010 2020
dbSNP: rs10974947
rs10974947
3 0.882 0.080 9 5072846 intron variant G/A snv 0.23 0.010 1.000 1 2008 2008
dbSNP: rs1268279596
rs1268279596
1 1.000 0.040 1 15495419 missense variant G/A snv 8.5E-06 0.010 1.000 1 2019 2019
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2002 2002
dbSNP: rs746364606
rs746364606
1 1.000 0.040 3 184372642 missense variant G/A snv 1.2E-05 1.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs918140013
rs918140013
2 0.925 0.080 12 111447663 missense variant G/A snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs28928907
rs28928907
MPL
4 0.882 0.160 1 43338634 missense variant G/A;C snv 8.0E-06; 3.8E-04 0.700 1.000 8 2000 2018
dbSNP: rs77375493
rs77375493
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.100 0.982 222 2005 2020
dbSNP: rs12342421
rs12342421
5 0.851 0.080 9 5065750 intron variant G/C snv 0.23 0.010 1.000 1 2008 2008