Source: CLINVAR

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: 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: 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: rs397518423
rs397518423
PIK3CD
0.790 0.240 1 9726972 missense variant G/A snv
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.700 0
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
dbSNP: rs587776456
rs587776456
GATA1
1.000 0.120 X 48794162 stop lost T/C snv
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.700 0
dbSNP: rs757788894
rs757788894
CLCN7
0.882 0.120 16 1449081 missense variant C/T snv 4.0E-06
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.700 0
dbSNP: rs786205154
rs786205154
ETV6
1.000 0.120 12 11885921 coding sequence variant GAACA/- delins
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.700 0
dbSNP: rs80338701
rs80338701
PMM2
0.776 0.360 16 8811088 stop gained C/A;T snv 4.4E-05; 5.4E-06
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.700 0
dbSNP: rs867593888
rs867593888
MYH9
0.882 0.200 22 36292059 missense variant T/C snv
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.700 0
dbSNP: rs869320714
rs869320714
SLFN14
1.000 17 35557404 missense variant A/T snv
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.700 0
dbSNP: rs869320715
rs869320715
SLFN14
1.000 17 35557406 missense variant T/A snv
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.700 0
dbSNP: rs878853314
rs878853314
GBA
0.882 0.240 1 155239655 missense variant C/G snv
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.700 0
dbSNP: rs878853315
rs878853315
GBA
0.925 0.160 1 155236292 missense variant G/C snv
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.700 0