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: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 1.000 14 2001 2019
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.070 1.000 7 2004 2015
dbSNP: rs1057519695
rs1057519695
35 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.010 1.000 1 2016 2016
dbSNP: rs1057519753
rs1057519753
9 0.763 0.120 1 64846664 missense variant C/A snv 0.010 1.000 1 2011 2011
dbSNP: rs1057519834
rs1057519834
31 0.658 0.480 1 114713908 missense variant TG/CT mnv 0.010 1.000 1 2016 2016
dbSNP: rs11554290
rs11554290
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs121913615
rs121913615
MPL
25 0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs12748152
rs12748152
8 1.000 0.120 1 26811902 upstream gene variant C/T snv 5.7E-02 0.700 1.000 1 2017 2017
dbSNP: rs1801265
rs1801265
13 0.763 0.280 1 97883329 missense variant A/G snv 0.28 0.010 1.000 1 2017 2017
dbSNP: rs2622849
rs2622849
1 1.000 0.120 1 102955788 intron variant T/A;C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs343604
rs343604
1 1.000 0.120 1 110716148 intergenic variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs41307935
rs41307935
3 1.000 0.120 1 26854576 3 prime UTR variant C/T snv 6.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs45461499
rs45461499
1 1.000 0.120 1 43363065 missense variant G/A;T snv 6.1E-04; 1.6E-03 0.700 1.000 1 2016 2016
dbSNP: rs637868
rs637868
3 1.000 0.120 1 119714487 splice region variant T/C snv 0.56 0.700 1.000 1 2017 2017
dbSNP: rs6684897
rs6684897
3 1.000 0.120 1 238128048 intergenic variant C/G snv 0.83 0.700 1.000 1 2017 2017
dbSNP: rs1135401746
rs1135401746
7 0.827 0.400 1 1806512 missense variant C/G snv 0.700 0
dbSNP: rs144104656
rs144104656
3 1.000 0.120 2 118661291 regulatory region variant A/G snv 1.1E-03 0.700 1.000 1 2017 2017
dbSNP: rs149940960
rs149940960
3 1.000 0.120 2 11641492 3 prime UTR variant T/C snv 1.0E-02 0.700 1.000 1 2017 2017
dbSNP: rs1569175
rs1569175
1 1.000 0.120 2 200157231 intergenic variant T/C snv 0.88 0.700 1.000 1 2009 2009
dbSNP: rs17032980
rs17032980
3 1.000 0.120 2 67075611 intergenic variant A/G snv 0.25 0.700 1.000 1 2015 2015
dbSNP: rs231775
rs231775
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs4553808
rs4553808
28 0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16 0.010 1.000 1 2018 2018
dbSNP: rs60086424
rs60086424
1 1.000 0.120 2 52162981 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs540476365
rs540476365
1 1.000 0.120 3 47121125 missense variant T/C snv 0.700 1.000 2 2014 2014
dbSNP: rs780963440
rs780963440
1 1.000 0.120 3 47123960 missense variant G/A;C snv 5.0E-05; 1.3E-05 0.700 1.000 2 2014 2014