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: rs1057519753
rs1057519753
9 0.763 0.120 1 64846664 missense variant C/A snv 0.700 1.000 1 2005 2005
dbSNP: rs10815148
rs10815148
3 0.882 0.080 9 5057284 intron variant T/A snv 0.33 0.010 1.000 1 2008 2008
dbSNP: rs10974947
rs10974947
3 0.882 0.080 9 5072846 intron variant G/A snv 0.23 0.010 1.000 1 2008 2008
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: 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: rs1200469268
rs1200469268
2 0.925 0.080 9 104830968 missense variant C/A snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1217691063
rs1217691063
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: rs121912473
rs121912473
3 0.925 0.080 9 5070026 missense variant AA/TT mnv 0.010 1.000 1 2012 2012
dbSNP: rs121913499
rs121913499
51 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.010 1.000 1 2010 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: rs12339666
rs12339666
3 0.925 0.080 9 5063296 intron variant G/T snv 0.34 0.010 1.000 1 2017 2017
dbSNP: rs12342421
rs12342421
5 0.851 0.080 9 5065750 intron variant G/C snv 0.23 0.010 1.000 1 2008 2008
dbSNP: rs1253570532
rs1253570532
2 0.925 0.080 21 34792289 missense variant G/A snv 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs12979860
rs12979860
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.010 1.000 1 2018 2018
dbSNP: rs17576
rs17576
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.010 < 0.001 1 2015 2015
dbSNP: rs17849241
rs17849241
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: 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: rs267606870
rs267606870
11 0.763 0.280 15 90088703 missense variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs318699
rs318699
3 0.882 0.080 19 11390564 intron variant A/G snv 0.73 0.010 1.000 1 2008 2008
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: rs3808850
rs3808850
2 0.925 0.080 9 4983311 upstream gene variant T/A;C snv 0.010 1.000 1 2008 2008
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2014 2014
dbSNP: rs4073
rs4073
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.010 1.000 1 2019 2019
dbSNP: rs4495487
rs4495487
3 0.925 0.080 9 5072798 intron variant T/C snv 0.23 0.010 1.000 1 2012 2012
dbSNP: rs562533120
rs562533120
3 0.882 0.080 6 134966397 missense variant A/C snv 8.0E-06 0.010 1.000 1 2015 2015