Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918552
rs121918552
CYCS
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		T 0.710 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019
dbSNP: rs724159947
rs724159947
ETV6
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		T 0.710 GeneticVariation CLINVAR Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. 25581430

2015
dbSNP: rs786205155
rs786205155
ETV6
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		C 0.710 CausalMutation CLINVAR

dbSNP: rs879255268
rs879255268
SRC
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		A 0.710 GeneticVariation CLINVAR

dbSNP: rs104894419
rs104894419
LIG4
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		A 0.700 CausalMutation CLINVAR Extreme growth failure is a common presentation of ligase IV deficiency. 24123394

2014
dbSNP: rs104894419
rs104894419
LIG4
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		A 0.700 CausalMutation CLINVAR DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. 11779494

2001
dbSNP: rs104894816
rs104894816
GATA1
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		G 0.700 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019
dbSNP: rs1064797085
rs1064797085
FLI1
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs121908064
rs121908064
CHRNE ; GP1BA
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		G 0.700 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019
dbSNP: rs121909752
rs121909752
GP1BB ; SEPTIN5 ; SEPT5-GP1BB
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		A 0.700 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019
dbSNP: rs132630273
rs132630273
WAS
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		T 0.700 CausalMutation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019
dbSNP: rs138924661
rs138924661
TRIM25 ; DGKE
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1441937959
rs1441937959
EFL1
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs146249964
rs146249964
MPL
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		A 0.700 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019
dbSNP: rs1553196096
rs1553196096
CDC42
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1554162524
rs1554162524
ELOVL4
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554785242
rs1554785242
ADAMTS13
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1554791280
rs1554791280
ADAMTS13
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1554800065
rs1554800065
ANKRD26
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1556620697
rs1556620697
SH2D1A ; STAG2
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1559810905
rs1559810905
IFIH1
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		A 0.700 CausalMutation CLINVAR An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1. 30965144

2020
dbSNP: rs1569008655
rs1569008655
RUNX1
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		A 0.700 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019
dbSNP: rs1569061762
rs1569061762
RUNX1
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1569061768
rs1569061768
RUNX1
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs190521996
rs190521996
PMM2
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		C 0.700 CausalMutation CLINVAR