Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		0.800 0.966 174 2005 2020
dbSNP: rs121913614
rs121913614
MPL
0.790 0.120 1 43349308 missense variant G/A snv
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		0.730 1.000 3 2008 2020
dbSNP: rs121913615
rs121913615
MPL
0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		0.100 0.929 14 2006 2020
dbSNP: rs121913616
rs121913616
MPL
0.790 0.120 1 43349337 missense variant TG/AA mnv
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		0.050 1.000 5 2009 2014
dbSNP: rs201478192
rs201478192
KIDINS220
0.790 0.200 2 8731667 missense variant C/A snv 2.4E-04 2.6E-04
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		0.040 1.000 4 2007 2015
dbSNP: rs10815148
rs10815148
JAK2 ; INSL6
0.882 0.080 9 5057284 intron variant T/A snv 0.33
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		0.010 1.000 1 2008 2008
dbSNP: rs10974944
rs10974944
JAK2 ; INSL6
0.882 0.160 9 5070831 intron variant C/G snv 0.25
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		0.010 1.000 1 2010 2010
dbSNP: rs10974947
rs10974947
JAK2 ; INSL6
0.882 0.080 9 5072846 intron variant G/A snv 0.23
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		0.010 1.000 1 2008 2008
dbSNP: rs1131691026
rs1131691026
TP53
0.925 0.160 17 7675174 stop gained C/T snv
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		0.010 1.000 1 2018 2018
dbSNP: rs1131691903
rs1131691903
VPS45
0.882 0.160 1 150093558 missense variant C/T snv
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		0.010 1.000 1 2017 2017
dbSNP: rs1206165503
rs1206165503
TP53
0.925 0.160 17 7675175 stop gained C/T snv
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		0.010 1.000 1 2018 2018
dbSNP: rs121912656
rs121912656
TP53
0.662 0.560 17 7674229 missense variant C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		0.010 1.000 1 2012 2012
dbSNP: rs121913499
rs121913499
IDH1
0.605 0.520 2 208248389 missense variant G/A;C;T snv
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		0.010 1.000 1 2010 2010
dbSNP: rs121913502
rs121913502
IDH2
0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		0.010 1.000 1 2010 2010
dbSNP: rs121913505
rs121913505
KIT
0.925 0.080 4 54695598 missense variant G/A snv 2.0E-05
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		0.010 1.000 1 1997 1997
dbSNP: rs12342421
rs12342421
JAK2 ; INSL6
0.851 0.080 9 5065750 intron variant G/C snv 0.23
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		0.010 1.000 1 2008 2008
dbSNP: rs1456725200
rs1456725200
DNMT3A
1.000 0.040 2 25246661 missense variant C/A;T snv
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		0.010 1.000 1 2012 2012
dbSNP: rs267606870
rs267606870
IDH2
0.763 0.280 15 90088703 missense variant G/A;C snv
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		0.010 1.000 1 2010 2010
dbSNP: rs28934578
rs28934578
TP53
0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		0.010 1.000 1 2012 2012
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		0.010 1.000 1 2016 2016
dbSNP: rs318699
rs318699
RGL3
0.882 0.080 19 11390564 intron variant A/G snv 0.73
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		0.010 1.000 1 2008 2008
dbSNP: rs377467108
rs377467108
EZH2
0.882 0.120 7 148827254 missense variant C/A;T snv 6.4E-05
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		0.010 1.000 1 2012 2012
dbSNP: rs4858647
rs4858647 		0.925 0.080 3 24749884 intron variant C/A;G;T snv
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		0.010 1.000 1 2018 2018
dbSNP: rs758881009
rs758881009
DNMT3A
1.000 0.040 2 25247628 missense variant C/A;T snv 8.0E-06; 2.4E-05
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		0.010 1.000 1 2012 2012
dbSNP: rs879255237
rs879255237
VPS45
0.807 0.160 1 150077763 missense variant C/A snv
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		0.010 1.000 1 2013 2013