Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894419
rs104894419
LIG4
0.807 0.360 13 108208829 stop gained G/A snv 9.9E-05 7.0E-05
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.700 1.000 2 2001 2014
dbSNP: rs104894816
rs104894816
GATA1
0.827 0.120 X 48792377 missense variant A/G snv
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.700 1.000 1 2019 2019
dbSNP: rs1064797085
rs1064797085
FLI1
1.000 11 128810620 frameshift variant ATTA/- delins
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.700 0
dbSNP: rs121908064
rs121908064
CHRNE ; GP1BA
1.000 0.080 17 4933367 missense variant A/G snv
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.700 1.000 1 2019 2019
dbSNP: rs121909752
rs121909752
GP1BB ; SEPTIN5 ; SEPT5-GP1BB
0.925 0.080 22 19723980 stop gained G/A;C snv 7.5E-06
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.700 1.000 1 2019 2019
dbSNP: rs121918552
rs121918552
CYCS
1.000 0.040 7 25123996 missense variant C/T snv
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.710 1.000 1 2014 2019
dbSNP: rs132630273
rs132630273
WAS
0.925 0.120 X 48684284 missense variant C/T snv
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.700 1.000 1 2019 2019
dbSNP: rs138924661
rs138924661
TRIM25 ; DGKE
0.807 0.120 17 56848773 stop gained G/A snv 9.1E-05 1.5E-04
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.700 0
dbSNP: rs1441937959
rs1441937959
EFL1
0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.700 0
dbSNP: rs146249964
rs146249964
MPL
0.851 0.080 1 43337929 splice donor variant T/A snv 4.0E-04 1.7E-04
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.700 1.000 1 2019 2019
dbSNP: rs1553196096
rs1553196096
CDC42
1 22086463 missense variant G/A snv
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.700 0
dbSNP: rs1554162524
rs1554162524
ELOVL4
0.882 0.160 6 79925034 splice acceptor variant T/C snv
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.700 0
dbSNP: rs1554785242
rs1554785242
ADAMTS13
0.882 0.160 9 133426240 missense variant G/T snv
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.700 0
dbSNP: rs1554791280
rs1554791280
ADAMTS13
0.882 0.160 9 133442718 missense variant T/C snv
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.700 0
dbSNP: rs1554800065
rs1554800065
ANKRD26
1.000 0.120 10 27100445 5 prime UTR variant G/C snv
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.700 0
dbSNP: rs1556620697
rs1556620697
SH2D1A ; STAG2
0.827 0.360 X 124365758 splice region variant C/G snv
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.700 0
dbSNP: rs1559810905
rs1559810905
IFIH1
0.827 0.240 2 162273810 missense variant T/A snv
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.700 1.000 1 2020 2020
dbSNP: rs1569008655
rs1569008655
RUNX1
21 34799310 stop gained G/A snv
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.700 1.000 1 2019 2019
dbSNP: rs1569061762
rs1569061762
RUNX1
21 34859476 missense variant C/T snv
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.700 0
dbSNP: rs1569061768
rs1569061768
RUNX1
1.000 0.120 21 34859477 stop gained G/A snv
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.700 0
dbSNP: rs190521996
rs190521996
PMM2
0.790 0.320 16 8811660 missense variant T/C snv 2.9E-04 4.1E-04
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.700 0
dbSNP: rs28928907
rs28928907
MPL
0.882 0.160 1 43338634 missense variant G/A;C snv 8.0E-06; 3.8E-04
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.700 1.000 1 2019 2019
dbSNP: rs397518423
rs397518423
PIK3CD
0.790 0.240 1 9726972 missense variant G/A snv
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.700 0
dbSNP: rs5030764
rs5030764
GP9
0.882 0.080 3 129061921 missense variant A/G snv 4.8E-04 7.4E-04
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.700 1.000 1 2019 2019
dbSNP: rs555607708
rs555607708
CHEK2
0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.700 0