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: 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: rs766642690
rs766642690
MPL
1 1.000 0.080 1 43352635 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs772889171
rs772889171
RUNX1
2 0.925 0.080 21 34834487 missense variant G/A snv 4.0E-06 0.010 1.000 1 2013 2013
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: rs775387828
rs775387828
NFE2
7 0.851 0.200 12 54293083 missense variant G/A snv 2.2E-05 7.0E-06 0.010 1.000 1 2013 2013
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: rs780178275
rs780178275
VHL
7 0.851 0.200 3 10146586 missense variant C/T snv 8.0E-06 0.010 1.000 1 2013 2013
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: rs121913615
rs121913615
MPL
25 0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 0.030 1.000 3 2008 2010
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: 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: rs1057519753
rs1057519753
JAK1
9 0.763 0.120 1 64846664 missense variant C/A snv 0.700 1.000 1 2005 2005
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