SLFN14, schlafen family member 14, 342618

N. diseases: 13; N. variants: 9
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs757188030
rs757188030
Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14
CUI: C4310797
Disease:
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
Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14
CUI: C4310797
Disease:
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
Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14
CUI: C4310797
Disease:
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
Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14
CUI: C4310797
Disease:
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
Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14
CUI: C4310797
Disease:
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
Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14
CUI: C4310797
Disease:
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
Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14
CUI: C4310797
Disease:
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
Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14
CUI: C4310797
Disease:
BLEEDING DISORDER, PLATELET-TYPE, 20 		0.800 GeneticVariation UNIPROT SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects. 26280575 2015
dbSNP: rs10512472
rs10512472
Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14
CUI: C0032181
Disease:
Platelet Count measurement 		C 0.800 GeneticVariation GWASDB New gene functions in megakaryopoiesis and platelet formation. 22139419 2011
dbSNP: rs10512472
rs10512472
Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14
CUI: C0032181
Disease:
Platelet Count measurement 		C 0.800 GeneticVariation GWASCAT New gene functions in megakaryopoiesis and platelet formation. 22139419 2011
dbSNP: rs757188030
rs757188030
Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14
CUI: C4310797
Disease:
BLEEDING DISORDER, PLATELET-TYPE, 20 		A 0.800 CausalMutation CLINVAR
dbSNP: rs869320714
rs869320714
Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14
CUI: C4310797
Disease:
BLEEDING DISORDER, PLATELET-TYPE, 20 		T 0.800 CausalMutation CLINVAR
dbSNP: rs869320715
rs869320715
Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14
CUI: C4310797
Disease:
BLEEDING DISORDER, PLATELET-TYPE, 20 		A 0.800 CausalMutation CLINVAR
dbSNP: rs869320716
rs869320716
Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14
CUI: C4310797
Disease:
BLEEDING DISORDER, PLATELET-TYPE, 20 		C 0.800 CausalMutation CLINVAR
dbSNP: rs7221322
rs7221322
Entrez Id: 342618;107985032
Gene Symbol: SLFN14;LOC107985032
SLFN14;LOC107985032
CUI: C0032181
Disease:
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: rs145171343
rs145171343
Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14
CUI: C0200665
Disease:
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
Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14
CUI: C3828530
Disease:
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
Entrez Id: 342618;107985033
Gene Symbol: SLFN14;LOC107985033
SLFN14;LOC107985033
CUI: C0206161
Disease:
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: rs8073060
rs8073060
Entrez Id: 342618;107985032
Gene Symbol: SLFN14;LOC107985032
SLFN14;LOC107985032
CUI: C0032181
Disease:
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
Entrez Id: 342618;107985032
Gene Symbol: SLFN14;LOC107985032
SLFN14;LOC107985032
CUI: C0206161
Disease:
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
Entrez Id: 342618;107985032
Gene Symbol: SLFN14;LOC107985032
SLFN14;LOC107985032
CUI: C3828530
Disease:
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
Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14
CUI: C0040034
Disease:
Thrombocytopenia 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs869320714
rs869320714
Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14
CUI: C1458140
Disease:
Bleeding tendency 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs869320715
rs869320715
Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14
CUI: C1458140
Disease:
Bleeding tendency 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs869320715
rs869320715
Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14
CUI: C0040034
Disease:
Thrombocytopenia 		A 0.700 GeneticVariation CLINVAR