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: rs1217691063
rs1217691063
MTHFR
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: rs121909646
rs121909646
FLT3
3 0.882 0.120 13 28018504 missense variant T/A;G snv 0.700 0
dbSNP: rs121913232
rs121913232
FLT3
2 0.925 0.120 13 28018500 missense variant G/C snv 0.700 0
dbSNP: rs121913448
rs121913448
ABL1
5 0.827 0.120 9 130862976 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs121913451
rs121913451
ABL1
4 0.851 0.160 9 130872903 missense variant C/A;G snv 0.010 1.000 1 2014 2014
dbSNP: rs121913459
rs121913459
ABL1
25 0.672 0.160 9 130872896 missense variant C/T snv 0.020 1.000 2 2007 2012
dbSNP: rs121913487
rs121913487
FLT3
2 0.925 0.120 13 28018503 missense variant A/C;T snv 0.700 0
dbSNP: rs121913488
rs121913488
FLT3
7 0.807 0.120 13 28018505 missense variant C/A;G;T snv 0.700 0
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: rs12540874
rs12540874
GRB10
3 0.882 0.280 7 50597225 intron variant A/C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs12669559
rs12669559
IKZF1
3 1.000 0.120 7 50368079 synonymous variant T/G snv 0.35 0.32 0.700 1.000 1 2013 2013
dbSNP: rs12719019
rs12719019 		2 1.000 0.120 7 50408441 downstream gene variant C/T snv 0.40 0.700 1.000 1 2013 2013
dbSNP: rs12719039
rs12719039
IKZF1
1 1.000 0.120 7 50351251 intron variant T/C snv 0.25 0.700 1.000 1 2013 2013
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: rs12786200
rs12786200
FAT3
3 1.000 0.120 11 92245852 intergenic variant C/T snv 0.22 0.700 1.000 1 2015 2015
dbSNP: rs12887958
rs12887958 		1 1.000 0.120 14 23113360 downstream gene variant C/T snv 0.37 0.700 1.000 1 2013 2013
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2008 2008
dbSNP: rs1339159756
rs1339159756
JAK2 ; INSL6
2 0.925 0.120 9 5078395 missense variant C/G snv 0.010 1.000 1 2017 2017
dbSNP: rs141708090
rs141708090
C3orf20
1 1.000 0.120 3 14761602 missense variant G/T snv 1.9E-03 5.2E-04 0.700 1.000 1 2016 2016
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: rs147390019
rs147390019
NUDT15
2 0.925 0.120 13 48045720 missense variant G/A snv 2.6E-03 2.2E-03 0.010 1.000 1 2016 2016
dbSNP: rs147481775
rs147481775
DEPDC5
3 1.000 0.120 22 31829377 intron variant C/A snv 6.6E-03 0.700 1.000 1 2017 2017
dbSNP: rs1478147351
rs1478147351
SETD2
1 1.000 0.120 3 47101485 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs149940960
rs149940960
GREB1
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: rs153109
rs153109
IL27
37 0.623 0.600 16 28507775 intron variant T/C snv 0.43 0.010 1.000 1 2018 2018