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
2 0.925 0.080 11 5253350 missense variant G/A snv 8.0E-06 0.010 1.000 1 1989 1989
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: rs12342421
rs12342421
5 0.851 0.080 9 5065750 intron variant G/C snv 0.23 0.010 1.000 1 2008 2008
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: rs3808850
rs3808850
2 0.925 0.080 9 4983311 upstream gene variant T/A;C snv 0.010 1.000 1 2008 2008
dbSNP: rs7046736
rs7046736
2 0.925 0.080 9 5015732 intron variant C/A snv 0.39 0.010 1.000 1 2008 2008
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: rs121913616
rs121913616
MPL
8 0.790 0.120 1 43349337 missense variant TG/AA mnv 0.010 1.000 1 2009 2009
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: rs773475680
rs773475680
1 1.000 0.080 9 130884139 missense variant C/T snv 4.0E-06 0.010 1.000 1 2009 2009
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: rs121913499
rs121913499
51 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.010 1.000 1 2010 2010
dbSNP: rs267606870
rs267606870
11 0.763 0.280 15 90088703 missense variant G/A;C snv 0.010 1.000 1 2010 2010
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: rs121912473
rs121912473
3 0.925 0.080 9 5070026 missense variant AA/TT mnv 0.010 1.000 1 2012 2012
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: 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: rs772889171
rs772889171
2 0.925 0.080 21 34834487 missense variant G/A snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs775387828
rs775387828
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: 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: 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: 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: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2014 2014