Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10512472
rs10512472
SLFN14
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		C 0.800 GeneticVariation GWASDB New gene functions in megakaryopoiesis and platelet formation. 22139419

2011
dbSNP: rs10512472
rs10512472
SLFN14
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		C 0.800 GeneticVariation GWASCAT New gene functions in megakaryopoiesis and platelet formation. 22139419

2011
dbSNP: rs757188030
rs757188030
SLFN14
CUI: C4310797
Disease: BLEEDING DISORDER, PLATELET-TYPE, 20
BLEEDING DISORDER, PLATELET-TYPE, 20 		0.800 GeneticVariation UNIPROT SLFN14-related thrombocytopenia: identification within a large series of patients with inherited thrombocytopenia. 26769223

2016
dbSNP: rs757188030
rs757188030
SLFN14
CUI: C4310797
Disease: BLEEDING DISORDER, PLATELET-TYPE, 20
BLEEDING DISORDER, PLATELET-TYPE, 20 		0.800 GeneticVariation UNIPROT SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects. 26280575

2015
dbSNP: rs757188030
rs757188030
SLFN14
CUI: C4310797
Disease: BLEEDING DISORDER, PLATELET-TYPE, 20
BLEEDING DISORDER, PLATELET-TYPE, 20 		A 0.800 CausalMutation CLINVAR

dbSNP: rs869320714
rs869320714
SLFN14
CUI: C4310797
Disease: BLEEDING DISORDER, PLATELET-TYPE, 20
BLEEDING DISORDER, PLATELET-TYPE, 20 		0.800 GeneticVariation UNIPROT SLFN14-related thrombocytopenia: identification within a large series of patients with inherited thrombocytopenia. 26769223

2016
dbSNP: rs869320714
rs869320714
SLFN14
CUI: C4310797
Disease: BLEEDING DISORDER, PLATELET-TYPE, 20
BLEEDING DISORDER, PLATELET-TYPE, 20 		0.800 GeneticVariation UNIPROT SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects. 26280575

2015
dbSNP: rs869320714
rs869320714
SLFN14
CUI: C4310797
Disease: BLEEDING DISORDER, PLATELET-TYPE, 20
BLEEDING DISORDER, PLATELET-TYPE, 20 		T 0.800 CausalMutation CLINVAR

dbSNP: rs869320715
rs869320715
SLFN14
CUI: C4310797
Disease: BLEEDING DISORDER, PLATELET-TYPE, 20
BLEEDING DISORDER, PLATELET-TYPE, 20 		0.800 GeneticVariation UNIPROT SLFN14-related thrombocytopenia: identification within a large series of patients with inherited thrombocytopenia. 26769223

2016
dbSNP: rs869320715
rs869320715
SLFN14
CUI: C4310797
Disease: BLEEDING DISORDER, PLATELET-TYPE, 20
BLEEDING DISORDER, PLATELET-TYPE, 20 		0.800 GeneticVariation UNIPROT SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects. 26280575

2015
dbSNP: rs869320715
rs869320715
SLFN14
CUI: C4310797
Disease: BLEEDING DISORDER, PLATELET-TYPE, 20
BLEEDING DISORDER, PLATELET-TYPE, 20 		A 0.800 CausalMutation CLINVAR

dbSNP: rs869320716
rs869320716
SLFN14
CUI: C4310797
Disease: BLEEDING DISORDER, PLATELET-TYPE, 20
BLEEDING DISORDER, PLATELET-TYPE, 20 		0.800 GeneticVariation UNIPROT SLFN14-related thrombocytopenia: identification within a large series of patients with inherited thrombocytopenia. 26769223

2016
dbSNP: rs869320716
rs869320716
SLFN14
CUI: C4310797
Disease: BLEEDING DISORDER, PLATELET-TYPE, 20
BLEEDING DISORDER, PLATELET-TYPE, 20 		0.800 GeneticVariation UNIPROT SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects. 26280575

2015
dbSNP: rs869320716
rs869320716
SLFN14
CUI: C4310797
Disease: BLEEDING DISORDER, PLATELET-TYPE, 20
BLEEDING DISORDER, PLATELET-TYPE, 20 		C 0.800 CausalMutation CLINVAR

dbSNP: rs145171343
rs145171343
SLFN14
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs145171343
rs145171343
SLFN14
CUI: C3828530
Disease: Platelet Component Distribution Width Measurement
Platelet Component Distribution Width Measurement 		T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs36064799
rs36064799
SLFN14 ; LOC107985033
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		CA 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs7221322
rs7221322
SLFN14 ; LOC107985032
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010

2018
dbSNP: rs8073060
rs8073060
SLFN14 ; LOC107985032
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs8073060
rs8073060
SLFN14 ; LOC107985032
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs8073060
rs8073060
SLFN14 ; LOC107985032
CUI: C3828530
Disease: Platelet Component Distribution Width Measurement
Platelet Component Distribution Width Measurement 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs869320714
rs869320714
SLFN14
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs869320714
rs869320714
SLFN14
CUI: C1458140
Disease: Bleeding tendency
Bleeding tendency 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs869320715
rs869320715
SLFN14
CUI: C1458140
Disease: Bleeding tendency
Bleeding tendency 		A 0.700 GeneticVariation CLINVAR

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