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: rs527297896
rs527297896
GFI1B
2 1.000 0.040 9 132988461 missense variant G/T snv 4.9E-04 8.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs74315451
rs74315451
RUNX1 ; LOC112267915
2 1.000 0.120 21 34880665 missense variant C/G snv 0.010 1.000 1 2002 2002
dbSNP: rs768288280
rs768288280
DPYD
2 1.000 0.080 1 97740403 missense variant T/C snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs863223318
rs863223318
ANKRD26
2 1.000 0.120 10 27100460 5 prime UTR variant C/T snv 0.700 1.000 1 2019 2019
dbSNP: rs1064797085
rs1064797085
FLI1
2 1.000 11 128810620 frameshift variant ATTA/- delins 0.700 0
dbSNP: rs1554800065
rs1554800065
ANKRD26
2 1.000 0.120 10 27100445 5 prime UTR variant G/C snv 0.700 0
dbSNP: rs1569061768
rs1569061768
RUNX1
2 1.000 0.120 21 34859477 stop gained G/A snv 0.700 0
dbSNP: rs587776456
rs587776456
GATA1
2 1.000 0.120 X 48794162 stop lost T/C snv 0.700 0
dbSNP: rs11789898
rs11789898
BRD3
3 9 134060541 intron variant G/T snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs121908064
rs121908064
CHRNE ; GP1BA
3 1.000 0.080 17 4933367 missense variant A/G snv 0.700 1.000 1 2019 2019
dbSNP: rs132630273
rs132630273
WAS
3 0.925 0.120 X 48684284 missense variant C/T snv 0.700 1.000 1 2019 2019
dbSNP: rs1453542
rs1453542
OR4D6
3 0.925 0.040 11 59457412 missense variant G/A;C snv 7.2E-05; 0.26 0.010 1.000 1 2016 2016
dbSNP: rs1523127
rs1523127
NR1I2
3 0.925 0.040 3 119782192 5 prime UTR variant C/A snv 0.48 0.010 1.000 1 2015 2015
dbSNP: rs2071346
rs2071346
MYC ; CASC11
3 0.925 0.160 8 127736777 intron variant G/T snv 7.1E-02 0.010 1.000 1 2019 2019
dbSNP: rs398122374
rs398122374
ITGB3 ; THCAT158
3 0.925 0.120 17 47307567 missense variant T/A;C;G snv 4.0E-06; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs4737420
rs4737420
LYN
3 0.925 0.080 8 55895622 non coding transcript exon variant T/C snv 0.38 0.010 1.000 1 2019 2019
dbSNP: rs4986910
rs4986910
CYP3A4
3 0.925 0.080 7 99760901 missense variant A/G snv 5.2E-03 5.1E-03 0.010 1.000 1 2015 2015
dbSNP: rs5925720
rs5925720
DDX53 ; PTCHD1-AS
3 0.925 0.040 X 23001200 missense variant G/T snv 0.15 9.4E-02 0.010 1.000 1 2016 2016
dbSNP: rs724159945
rs724159945
ETV6
3 1.000 12 11885968 missense variant C/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs724159946
rs724159946
ETV6
3 1.000 12 11884541 missense variant G/A snv 7.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs757006129
rs757006129
CHRNE ; GP1BA
3 1.000 0.160 17 4933521 missense variant G/A snv 2.4E-05 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs759838407
rs759838407
LIG4
3 0.925 0.160 13 108209756 frameshift variant AG/-;AGAG delins 0.700 1.000 1 2014 2014
dbSNP: rs760370
rs760370
SLC29A1
3 0.925 0.120 6 44233216 intron variant A/G snv 0.36 0.010 1.000 1 2016 2016
dbSNP: rs76600635
rs76600635
TLR1
3 0.925 0.040 4 38798702 missense variant A/G snv 8.2E-03 2.8E-03 0.010 1.000 1 2018 2018
dbSNP: rs7694379
rs7694379 		3 1.000 4 87265357 intron variant G/A snv 0.40 0.010 1.000 1 2019 2019