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: rs121918552
rs121918552
CYCS
2 1.000 0.040 7 25123996 missense variant C/T snv 0.710 1.000 2 2014 2019
dbSNP: rs724159947
rs724159947
ETV6
6 0.851 0.120 12 11869601 missense variant C/T snv 0.710 1.000 2 2015 2015
dbSNP: rs786205155
rs786205155
ETV6
4 0.882 0.120 12 11884481 missense variant T/C snv 0.710 1.000 1 2015 2015
dbSNP: rs879255268
rs879255268
SRC
3 0.925 0.040 20 37403347 missense variant G/A snv 0.710 1.000 1 2019 2019
dbSNP: rs104894419
rs104894419
LIG4
8 0.807 0.360 13 108208829 stop gained G/A snv 9.9E-05 7.0E-05 0.700 1.000 2 2001 2014
dbSNP: rs886043118
rs886043118
STAT1
5 0.925 0.040 2 191009916 frameshift variant T/- delins 0.700 1.000 2 2016 2018
dbSNP: rs104894816
rs104894816
GATA1
6 0.827 0.120 X 48792377 missense variant A/G snv 0.700 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: rs121909752
rs121909752
GP1BB ; SEPTIN5 ; SEPT5-GP1BB
4 0.925 0.080 22 19723980 stop gained G/A;C snv 7.5E-06 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: rs146249964
rs146249964
MPL
5 0.851 0.080 1 43337929 splice donor variant T/A snv 4.0E-04 1.7E-04 0.700 1.000 1 2019 2019
dbSNP: rs1559810905
rs1559810905
IFIH1
9 0.827 0.240 2 162273810 missense variant T/A snv 0.700 1.000 1 2020 2020
dbSNP: rs1569008655
rs1569008655
RUNX1
1 21 34799310 stop gained G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs28928907
rs28928907
MPL
4 0.882 0.160 1 43338634 missense variant G/A;C snv 8.0E-06; 3.8E-04 0.700 1.000 1 2019 2019
dbSNP: rs5030764
rs5030764
GP9
5 0.882 0.080 3 129061921 missense variant A/G snv 4.8E-04 7.4E-04 0.700 1.000 1 2019 2019
dbSNP: rs587778516
rs587778516
MPL
1 1 43338592 missense variant G/A snv 4.0E-06 7.0E-06 0.700 1.000 1 2019 2019
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: rs759838407
rs759838407
LIG4
3 0.925 0.160 13 108209756 frameshift variant AG/-;AGAG delins 0.700 1.000 1 2014 2014
dbSNP: rs766503255
rs766503255
ITGA2B
4 0.882 0.080 17 44372408 missense variant G/A;T snv 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs794727505
rs794727505
CLTA ; GNE
1 9 36246181 missense variant A/G snv 8.0E-06 0.700 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: rs138924661
rs138924661
TRIM25 ; DGKE
9 0.807 0.120 17 56848773 stop gained G/A snv 9.1E-05 1.5E-04 0.700 0
dbSNP: rs1441937959
rs1441937959
EFL1
20 0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06 0.700 0