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: rs766274360
rs766274360
PRSS27
3 0.882 0.040 16 2713697 missense variant G/T snv 1.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs9318227
rs9318227
KLF12
3 0.882 0.080 13 73926833 intron variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs397507476
rs397507476
BRAF
4 0.882 0.200 7 140778011 missense variant T/A;G snv 0.700 1.000 3 2006 2009
dbSNP: rs10251201
rs10251201
UMAD1
4 0.851 0.160 7 7932654 intron variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs11079041
rs11079041
STAT5B
4 0.882 0.040 17 42262061 intron variant T/A;C snv 0.36 0.010 1.000 1 2012 2012
dbSNP: rs1188975135
rs1188975135
APOBEC3C ; APOBEC3F
4 0.882 0.040 22 39017772 missense variant T/C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs121913452
rs121913452
ABL1
4 0.851 0.080 9 130873027 missense variant T/A;C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs1360698171
rs1360698171
RNASEL
4 0.851 0.080 1 182584103 missense variant T/C snv 0.010 1.000 1 2012 2012
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: rs35602083
rs35602083
FLT3
4 0.851 0.040 13 28049450 missense variant C/T snv 1.7E-02 1.6E-02 0.010 1.000 1 2006 2006
dbSNP: rs753000469
rs753000469
FLVCR1 ; FLVCR1-DT
4 0.851 0.200 1 212859113 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs754944509
rs754944509
CNTNAP1
4 0.851 0.080 17 42690793 missense variant C/T snv 4.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs974120
rs974120 		4 0.851 0.200 8 2789080 intron variant T/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs104894421
rs104894421
LIG4
4 0.882 0.200 13 108210436 missense variant C/A;T snv 1.2E-05 0.700 0
dbSNP: rs61753793
rs61753793
MSH6 ; FBXO11
4 0.851 0.120 2 47799002 missense variant T/C snv 3.6E-05 5.6E-05 0.700 0
dbSNP: rs74315450
rs74315450
RUNX1
5 0.851 0.120 21 34859485 missense variant C/T snv 0.020 1.000 2 2012 2015
dbSNP: rs1057519766
rs1057519766
FLT3
5 0.851 0.080 13 28028203 missense variant G/C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1057519866
rs1057519866
NT5C2
5 0.851 0.120 10 103093198 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs121913448
rs121913448
ABL1
5 0.827 0.120 9 130862976 missense variant G/A snv 0.010 1.000 1 2004 2004
dbSNP: rs121913461
rs121913461
ABL1
5 0.851 0.120 9 130862970 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs387906666
rs387906666
CBL
5 0.827 0.080 11 119278182 missense variant A/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs556915505
rs556915505
MECOM
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: rs780634396
rs780634396
BCL2
5 0.882 0.120 18 63318618 missense variant T/C snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs869312953
rs869312953
JAK1
5 0.851 0.120 1 64846735 missense variant G/T snv 0.010 1.000 1 2010 2010
dbSNP: rs1360131632
rs1360131632
STAT5A
6 0.827 0.080 17 42301316 missense variant C/T snv 4.0E-06 0.030 1.000 3 2004 2018