Source: BEFREE ×
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: rs121913502
rs121913502
IDH2
15 0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05 0.780 1.000 8 2010 2019
dbSNP: rs121913514
rs121913514
KIT
9 0.763 0.240 4 54733174 missense variant T/A;G snv 0.750 1.000 5 2006 2013
dbSNP: rs121913237
rs121913237
NRAS
42 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.740 1.000 4 1987 2017
dbSNP: rs121913488
rs121913488
FLT3
5 0.807 0.120 13 28018505 missense variant C/A;G;T snv 0.740 1.000 4 2001 2019
dbSNP: rs121913499
rs121913499
IDH1
40 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.740 1.000 4 2009 2016
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
230 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.030 1.000 3 2001 2005
dbSNP: rs2072671
rs2072671
CDA
14 0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25 0.030 1.000 3 2009 2015
dbSNP: rs1042919
rs1042919
RRM1
1 1.000 0.040 11 4138534 3 prime UTR variant A/T snv 0.88 0.020 1.000 2 2013 2017
dbSNP: rs1057519766
rs1057519766
FLT3
5 0.851 0.080 13 28028203 missense variant G/C;T snv 0.720 1.000 2 2013 2016
dbSNP: rs10821936
rs10821936
ARID5B
10 0.742 0.200 10 61963818 intron variant C/T snv 0.69 0.020 1.000 2 2014 2019
dbSNP: rs118101777
rs118101777
IDH2
42 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 0.020 1.000 2 2015 2018
dbSNP: rs121913503
rs121913503
IDH2
18 0.689 0.200 15 90088606 missense variant C/A;T snv 0.720 1.000 2 2010 2016
dbSNP: rs121913504
rs121913504
JAK3
2 0.882 0.080 19 17837200 missense variant G/A snv 0.020 1.000 2 2011 2015
dbSNP: rs1408538785
rs1408538785
DNAH8
6 0.827 0.080 6 38761760 missense variant A/G snv 7.0E-06 0.020 1.000 2 2016 2017
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
201 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.020 1.000 2 2001 2005
dbSNP: rs1800871
rs1800871
IL10 ; IL19
107 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.020 1.000 2 2015 2018
dbSNP: rs1800872
rs1800872
IL10 ; IL19
118 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: rs2234767
rs2234767
ACTA2 ; FAS
29 0.649 0.280 10 88989499 intron variant G/A;T snv 0.15 0.020 1.000 2 2010 2012
dbSNP: rs2293157
rs2293157
STAT5A
9 0.763 0.120 17 42300657 intron variant C/A;T snv 0.020 1.000 2 2012 2016
dbSNP: rs35719940
rs35719940
TERT
1 0.925 0.160 5 1254479 missense variant C/T snv 1.2E-02 1.3E-02 0.020 1.000 2 2014 2017
dbSNP: rs387906631
rs387906631
GATA2
3 0.882 0.080 3 128481901 missense variant G/A snv 0.720 1.000 2 2011 2012
dbSNP: rs5743708
rs5743708
TLR2
97 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 0.020 1.000 2 2015 2016
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: rs751661633
rs751661633
APOBEC3B ; APOBEC3A
6 0.851 0.120 22 38984136 missense variant C/A snv 4.1E-06 0.020 1.000 2 2009 2015