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: rs9376092
rs9376092
LOC105378010
10 0.851 0.120 6 135106006 upstream gene variant C/A snv 0.24 0.020 1.000 2 2015 2018
dbSNP: rs121913614
rs121913614
MPL
7 0.790 0.120 1 43349308 missense variant G/A snv 0.030 1.000 3 2010 2020
dbSNP: rs2736100
rs2736100
TERT
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.030 1.000 3 2015 2018
dbSNP: rs121913616
rs121913616
MPL
8 0.790 0.120 1 43349337 missense variant TG/AA mnv 0.040 1.000 4 2009 2015
dbSNP: rs201478192
rs201478192
KIDINS220
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: rs77375493
rs77375493
JAK2 ; INSL6
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.100 0.982 222 2005 2020
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 2007 2020
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: 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: 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: rs1343123940
rs1343123940
MPL
2 0.925 0.080 1 43339292 frameshift variant T/- del 4.0E-06 0.700 0