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: rs12980275
rs12980275
23 0.701 0.360 19 39241143 upstream gene variant A/G snv 0.36 0.010 1.000 1 2018 2018
dbSNP: rs1319313254
rs1319313254
1 9 5050807 missense variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1378379005
rs1378379005
1 19 12938723 missense variant C/G;T snv 2.1E-05 0.010 1.000 1 2016 2016
dbSNP: rs147368353
rs147368353
1 19 12938729 missense variant C/G;T snv 6.3E-05; 5.8E-05 0.010 1.000 1 2016 2016
dbSNP: rs1476891431
rs1476891431
MPL
1 1 43337895 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs16754
rs16754
WT1
15 0.732 0.240 11 32396399 synonymous variant T/C snv 0.24; 4.0E-06 0.17 0.010 1.000 1 2015 2015
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2016 2016
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: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2004 2004
dbSNP: rs182123615
rs182123615
7 0.807 0.200 9 5070058 splice region variant T/C snv 3.6E-04 1.1E-03 0.010 1.000 1 2016 2016
dbSNP: rs3733609
rs3733609
2 1.000 0.080 4 105269705 missense variant T/A;C snv 6.4E-06; 3.4E-02 0.010 1.000 1 2016 2016
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: rs4880
rs4880
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2016 2016
dbSNP: rs536289169
rs536289169
13 0.752 0.360 1 109688180 missense variant C/T snv 4.8E-04 0.010 1.000 1 2016 2016
dbSNP: rs556915505
rs556915505
5 0.851 0.080 3 169143780 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs727503094
rs727503094
41 0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 0.010 1.000 1 2017 2017
dbSNP: rs796065343
rs796065343
12 0.776 0.080 1 36467833 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs8099917
rs8099917
60 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 0.010 1.000 1 2018 2018