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: rs11999802
rs11999802 		1 1.000 0.080 9 5189773 upstream gene variant T/G snv 0.33 0.010 1.000 1 2011 2011
dbSNP: rs2201862
rs2201862 		3 0.925 0.080 3 168930251 downstream gene variant T/C snv 0.63 0.010 1.000 1 2017 2017
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: rs773475680
rs773475680
ABL1
1 1.000 0.080 9 130884139 missense variant C/T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs4073
rs4073
CXCL8
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.010 1.000 1 2019 2019
dbSNP: rs777342222
rs777342222
EGFR
1 1.000 0.080 7 55155925 missense variant T/C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs754190776
rs754190776
HBG2
2 0.925 0.080 11 5253350 missense variant G/A snv 8.0E-06 0.010 1.000 1 1989 1989
dbSNP: rs562533120
rs562533120
HBS1L
3 0.882 0.080 6 134966397 missense variant A/C snv 8.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs121913499
rs121913499
IDH1
51 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.010 1.000 1 2010 2010
dbSNP: rs267606870
rs267606870
IDH2
11 0.763 0.280 15 90088703 missense variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs12979860
rs12979860
IFNL4
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.010 1.000 1 2018 2018
dbSNP: rs1057519753
rs1057519753
JAK1
9 0.763 0.120 1 64846664 missense variant C/A snv 0.700 1.000 1 2005 2005
dbSNP: rs3808850
rs3808850
JAK2
2 0.925 0.080 9 4983311 upstream gene variant T/A;C snv 0.010 1.000 1 2008 2008
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.900 0.960 274 2005 2019
dbSNP: rs10815148
rs10815148
JAK2 ; INSL6
3 0.882 0.080 9 5057284 intron variant T/A snv 0.33 0.010 1.000 1 2008 2008
dbSNP: rs10974947
rs10974947
JAK2 ; INSL6
3 0.882 0.080 9 5072846 intron variant G/A snv 0.23 0.010 1.000 1 2008 2008
dbSNP: rs121912473
rs121912473
JAK2 ; INSL6
3 0.925 0.080 9 5070026 missense variant AA/TT mnv 0.010 1.000 1 2012 2012
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: rs12342421
rs12342421
JAK2 ; INSL6
5 0.851 0.080 9 5065750 intron variant G/C snv 0.23 0.010 1.000 1 2008 2008
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: rs7046736
rs7046736
JAK2 ; INSL6
2 0.925 0.080 9 5015732 intron variant C/A snv 0.39 0.010 1.000 1 2008 2008
dbSNP: rs201478192
rs201478192
KIDINS220
12 0.790 0.200 2 8731667 missense variant C/A snv 2.4E-04 2.6E-04 0.040 1.000 4 2013 2015
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 2017
dbSNP: rs17576
rs17576
MMP9
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.010 < 0.001 1 2015 2015