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: rs1057519752
rs1057519752
MPL
1 1.000 0.080 1 43349307 missense variant A/C;G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs12340895
rs12340895
JAK2 ; INSL6
1 1.000 0.080 9 5076691 intron variant C/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs1441084781
rs1441084781
TLR4
1 1.000 0.080 9 117712543 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs59384377
rs59384377
JAK2 ; INSL6
1 1.000 0.080 9 5005034 intron variant A/T snv 0.26 0.010 1.000 1 2016 2016
dbSNP: rs764634461
rs764634461
JAK2 ; INSL6
1 1.000 0.080 9 5072516 missense variant T/G snv 1.2E-05 2.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs1200469268
rs1200469268
ABCA1
2 0.925 0.080 9 104830968 missense variant C/A snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs3733609
rs3733609
TET2 ; TET2-AS1
2 1.000 0.080 4 105269705 missense variant T/A;C snv 6.4E-06; 3.4E-02 0.010 1.000 1 2016 2016
dbSNP: rs4858647
rs4858647 		2 0.925 0.080 3 24749884 intron variant C/A;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs529311209
rs529311209
SGSM3
2 0.925 0.120 22 40409754 missense variant G/A;C;T snv 3.3E-05; 8.2E-06 0.010 1.000 1 2012 2012
dbSNP: rs121913504
rs121913504
JAK3
3 0.882 0.080 19 17837200 missense variant G/A snv 0.700 1.000 4 2010 2014
dbSNP: rs2201862
rs2201862 		3 0.925 0.080 3 168930251 downstream gene variant T/C snv 0.63 0.020 1.000 2 2017 2018
dbSNP: rs121912473
rs121912473
JAK2 ; INSL6
3 0.925 0.080 9 5070026 missense variant AA/TT mnv 0.010 1.000 1 2011 2011
dbSNP: rs12339666
rs12339666
JAK2 ; INSL6
3 0.925 0.080 9 5063296 intron variant G/T snv 0.34 0.010 1.000 1 2017 2017
dbSNP: rs1259653415
rs1259653415
TFRC
3 1.000 0.080 3 196071416 missense variant T/C snv 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs17292650
rs17292650
MPL
3 0.882 0.120 1 43338136 missense variant G/T snv 3.5E-03 1.4E-02 0.010 1.000 1 2004 2004
dbSNP: rs17849241
rs17849241
SOCS3 ; LOC101928674
3 0.925 0.080 17 78358688 missense variant G/C;T snv 4.1E-06; 2.1E-04 0.010 1.000 1 2009 2009
dbSNP: rs4495487
rs4495487
JAK2 ; INSL6
3 0.925 0.080 9 5072798 intron variant T/C snv 0.23 0.010 1.000 1 2012 2012
dbSNP: rs562533120
rs562533120
HBS1L
3 0.882 0.080 6 134966397 missense variant A/C snv 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs10974944
rs10974944
JAK2 ; INSL6
4 0.882 0.160 9 5070831 intron variant C/G snv 0.25 0.040 1.000 4 2009 2014
dbSNP: rs121913520
rs121913520
KIT
4 1.000 0.080 4 54727443 missense variant G/A snv 0.700 1.000 2 2009 2014
dbSNP: rs1057519721
rs1057519721
JAK2 ; INSL6
4 0.882 0.120 9 5078360 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs778767225
rs778767225
MOK
4 0.851 0.200 14 102231805 missense variant C/A snv 2.4E-05 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs12342421
rs12342421
JAK2 ; INSL6
5 0.851 0.080 9 5065750 intron variant G/C snv 0.23 0.020 1.000 2 2013 2014
dbSNP: rs1057520016
rs1057520016
JAK2 ; INSL6
5 0.851 0.080 9 5089726 missense variant C/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs556915505
rs556915505
MECOM
5 0.851 0.080 3 169143780 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2011 2011