Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs879255268
rs879255268
SRC
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		A 0.710 GeneticVariation CLINVAR

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

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: 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: rs886043118
rs886043118
STAT1
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		A 0.700 CausalMutation CLINVAR A novel presentation of homozygous loss-of-function STAT-1 mutation in an infant with hyperinflammation-A case report and review of the literature. 27117246

2018
dbSNP: rs886043118
rs886043118
STAT1
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		A 0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
dbSNP: rs878853315
rs878853315
GBA
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs878853314
rs878853314
GBA
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs869320715
rs869320715
SLFN14
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs869320714
rs869320714
SLFN14
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs867593888
rs867593888
MYH9
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs863223318
rs863223318
ANKRD26
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		T 0.700 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019
dbSNP: rs80338701
rs80338701
PMM2
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs794727505
rs794727505
CLTA ; GNE
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: rs786205154
rs786205154
ETV6
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs766503255
rs766503255
ITGA2B
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		A 0.700 CausalMutation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019
dbSNP: rs759838407
rs759838407
LIG4
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		C 0.700 CausalMutation CLINVAR Extreme growth failure is a common presentation of ligase IV deficiency. 24123394

2014
dbSNP: rs757788894
rs757788894
CLCN7
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs724159946
rs724159946
ETV6
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		A 0.700 CausalMutation CLINVAR Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. 25581430

2015
dbSNP: rs724159945
rs724159945
ETV6
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		T 0.700 CausalMutation CLINVAR Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. 25581430

2015
dbSNP: rs587778516
rs587778516
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: rs587776456
rs587776456
GATA1
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs555607708
rs555607708
CHEK2
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs5030764
rs5030764
GP9
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: rs397518423
rs397518423
PIK3CD
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		A 0.700 CausalMutation CLINVAR