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: 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: rs141311765
rs141311765
MPL
1 1.000 0.040 1 43340027 missense variant T/C snv 3.4E-04 1.2E-03 0.010 1.000 1 2012 2012
dbSNP: rs148431413
rs148431413
TPO
1 1.000 0.040 2 1496134 missense variant T/G snv 6.0E-05 2.2E-04 0.010 1.000 1 2008 2008
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: 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: 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: 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: rs146249964
rs146249964
MPL
5 0.851 0.080 1 43337929 splice donor variant T/A snv 4.0E-04 1.7E-04 0.700 1.000 2 1994 2001
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: 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: 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: rs1057520016
rs1057520016
5 0.851 0.080 9 5089726 missense variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs10815148
rs10815148
3 0.882 0.080 9 5057284 intron variant T/A snv 0.33 0.010 1.000 1 2008 2008
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: rs111340708
rs111340708
2 0.925 0.080 12 111447548 intron variant TGGGGTGGGGTGGGG/-;TGGGG;TGGGGTGGGG;TGGGGTGGGGTGGGGTGGGG;TGGGGTGGGGTGGGGTGGGGTGGGG delins 0.52 0.010 1.000 1 2016 2016
dbSNP: rs121913454
rs121913454
2 0.925 0.080 9 130874969 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs12342421
rs12342421
5 0.851 0.080 9 5065750 intron variant G/C snv 0.23 0.010 1.000 1 2008 2008
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: rs3808850
rs3808850
2 0.925 0.080 9 4983311 upstream gene variant T/A;C snv 0.010 1.000 1 2008 2008
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: 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: rs1343123940
rs1343123940
MPL
2 0.925 0.080 1 43339292 frameshift variant T/- del 4.0E-06 0.700 0
dbSNP: rs121913616
rs121913616
MPL
8 0.790 0.120 1 43349337 missense variant TG/AA mnv 0.040 1.000 4 2009 2015
dbSNP: rs121913614
rs121913614
MPL
7 0.790 0.120 1 43349308 missense variant G/A snv 0.030 1.000 3 2010 2020
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