Source: ALL

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: rs121913614
rs121913614
MPL
0.790 0.120 1 43349308 missense variant G/A snv
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.710 1.000 4 2008 2013
dbSNP: rs121913504
rs121913504
JAK3
0.882 0.080 19 17837200 missense variant G/A snv
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.700 1.000 4 2010 2014
dbSNP: rs121913520
rs121913520
KIT
1.000 0.080 4 54727443 missense variant G/A snv
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.700 1.000 2 2009 2014
dbSNP: rs1057519752
rs1057519752
MPL
1.000 0.080 1 43349307 missense variant A/C;G;T snv
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.700 1.000 1 2011 2011
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.100 0.974 269 2005 2020
dbSNP: rs121913615
rs121913615
MPL
0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.100 1.000 10 2008 2018
dbSNP: rs2736100
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.080 1.000 8 2014 2019
dbSNP: rs201478192
rs201478192
KIDINS220
0.790 0.200 2 8731667 missense variant C/A snv 2.4E-04 2.6E-04
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.070 1.000 7 2006 2019
dbSNP: rs12343867
rs12343867
JAK2 ; INSL6
0.790 0.200 9 5074189 intron variant T/C snv 0.25
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.050 1.000 5 2012 2017
dbSNP: rs10974944
rs10974944
JAK2 ; INSL6
0.882 0.160 9 5070831 intron variant C/G snv 0.25
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.040 1.000 4 2009 2014
dbSNP: rs121913237
rs121913237
NRAS
0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.040 1.000 4 2011 2017
dbSNP: rs121918462
rs121918462
PTPN11
0.742 0.320 12 112450398 missense variant C/T snv
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.040 0.750 4 2005 2015
dbSNP: rs121913616
rs121913616
MPL
0.790 0.120 1 43349337 missense variant TG/AA mnv
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.020 1.000 2 2008 2009
dbSNP: rs12342421
rs12342421
JAK2 ; INSL6
0.851 0.080 9 5065750 intron variant G/C snv 0.23
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.020 1.000 2 2013 2014
dbSNP: rs2201862
rs2201862 		0.925 0.080 3 168930251 downstream gene variant T/C snv 0.63
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.020 1.000 2 2017 2018
dbSNP: rs9376092
rs9376092
LOC105378010
0.851 0.120 6 135106006 upstream gene variant C/A snv 0.24
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.020 1.000 2 2017 2018
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.010 1.000 1 2017 2017
dbSNP: rs104894365
rs104894365
KRAS
0.827 0.320 12 25245345 missense variant C/T snv
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.010 1.000 1 2016 2016
dbSNP: rs1057519721
rs1057519721
JAK2 ; INSL6
0.882 0.120 9 5078360 missense variant A/G snv
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.010 1.000 1 2012 2012
dbSNP: rs1057519819
rs1057519819
MAP2K1
0.851 0.240 15 66436750 missense variant T/C snv
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.010 1.000 1 2015 2015
dbSNP: rs1057520016
rs1057520016
JAK2 ; INSL6
0.851 0.080 9 5089726 missense variant C/A;T snv
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.010 1.000 1 2011 2011
dbSNP: rs1200469268
rs1200469268
ABCA1
0.925 0.080 9 104830968 missense variant C/A snv 7.0E-06
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.010 1.000 1 2019 2019
dbSNP: rs121912473
rs121912473
JAK2 ; INSL6
0.925 0.080 9 5070026 missense variant AA/TT mnv
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.010 1.000 1 2011 2011
dbSNP: rs121913502
rs121913502
IDH2
0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.010 1.000 1 2015 2015
dbSNP: rs121913529
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.010 1.000 1 2017 2017