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: 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: rs361525
rs361525
TNF
62 0.562 0.760 6 31575324 upstream gene variant G/A snv 4.6E-02 0.010 1.000 1 2019 2019
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: 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: rs1253570532
rs1253570532
RUNX1
2 0.925 0.080 21 34792289 missense variant G/A snv 7.0E-06 0.010 1.000 1 2013 2013
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: rs318699
rs318699
RGL3
3 0.882 0.080 19 11390564 intron variant A/G snv 0.73 0.010 1.000 1 2008 2008
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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2014 2014
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: rs121913616
rs121913616
MPL
8 0.790 0.120 1 43349337 missense variant TG/AA mnv 0.010 1.000 1 2009 2009
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: 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
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: 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: 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: rs3808850
rs3808850
JAK2
2 0.925 0.080 9 4983311 upstream gene variant T/A;C snv 0.010 1.000 1 2008 2008