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: rs77375493
rs77375493
JAK2 ; INSL6
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.900 0.966 29 2005 2019
dbSNP: rs121913488
rs121913488
FLT3
7 0.807 0.120 13 28018505 missense variant C/A;G;T snv 0.740 1.000 22 2001 2019
dbSNP: rs147001633
rs147001633
DNMT3A
15 0.776 0.240 2 25234373 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.2E-04 0.800 1.000 21 2010 2019
dbSNP: rs121913502
rs121913502
IDH2
19 0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05 0.780 1.000 16 2010 2019
dbSNP: rs121913500
rs121913500
IDH1
96 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.760 0.923 13 2009 2019
dbSNP: rs121913507
rs121913507
KIT
49 0.614 0.400 4 54733155 missense variant A/T snv 0.100 1.000 11 1998 2019
dbSNP: rs121913682
rs121913682
KIT
52 0.605 0.400 4 54733167 missense variant A/G;T snv 0.100 1.000 11 1998 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.080 0.875 8 2003 2019
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.060 0.833 6 2006 2019
dbSNP: rs11540652
rs11540652
TP53
57 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.710 1.000 5 2014 2019
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.050 0.800 5 2006 2019
dbSNP: rs121912472
rs121912472
JAK2 ; INSL6
2 0.925 0.080 9 5073742 missense variant G/C snv 0.810 1.000 4 2006 2019
dbSNP: rs1057519764
rs1057519764
FLT3
1 1.000 0.040 13 28027222 missense variant A/C;T snv 0.710 1.000 2 2012 2019
dbSNP: rs10821936
rs10821936
ARID5B
11 0.742 0.200 10 61963818 intron variant C/T snv 0.69 0.020 1.000 2 2014 2019
dbSNP: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.020 1.000 2 2015 2019
dbSNP: rs1800896
rs1800896
IL10 ; IL19
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.020 1.000 2 2015 2019
dbSNP: rs7309123
rs7309123
CLEC7A ; LOC105369655
8 0.807 0.280 12 10119994 intron variant G/C snv 0.42 0.020 1.000 2 2016 2019
dbSNP: rs771684063
rs771684063
DHX16
1 1.000 0.040 6 30665559 missense variant G/A;C snv 1.6E-05 0.020 1.000 2 2017 2019
dbSNP: rs1057520016
rs1057520016
JAK2 ; INSL6
5 0.851 0.080 9 5089726 missense variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs111394117
rs111394117
NOTCH4
1 1.000 0.040 6 32219436 intron variant G/A snv 7.7E-03 0.010 1.000 1 2019 2019
dbSNP: rs1178981336
rs1178981336
C9orf43
2 1.000 0.040 9 113424228 frameshift variant -/G delins 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs138817062
rs138817062
PML
4 0.882 0.040 15 74044940 missense variant C/T snv 4.0E-05 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs142269166
rs142269166
JAK2 ; INSL6
1 1.000 0.040 9 5126715 missense variant A/G snv 2.0E-03 2.1E-03 0.010 1.000 1 2019 2019
dbSNP: rs150008607
rs150008607
MYH8 ; MYHAS
1 1.000 0.040 17 10398875 stop gained G/A snv 7.1E-04 2.4E-04 0.010 1.000 1 2019 2019
dbSNP: rs17213693
rs17213693
HLA-DOB
2 0.925 0.120 6 32813344 intron variant G/C snv 9.8E-02 0.010 1.000 1 2019 2019