SLC19A2, solute carrier family 19 member 2, 10560

N. diseases: 70; N. variants: 15
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28937595
rs28937595
Entrez Id: 10560
Gene Symbol: SLC19A2
SLC19A2
CUI: C0342287
Disease:
Thiamine responsive megaloblastic anemia syndrome 		T 0.810 CausalMutation CLINVAR Thiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update. 19643445 2009
dbSNP: rs28937595
rs28937595
Entrez Id: 10560
Gene Symbol: SLC19A2
SLC19A2
CUI: C0342287
Disease:
Thiamine responsive megaloblastic anemia syndrome 		T 0.810 CausalMutation CLINVAR Vitamin B1 (thiamine) uptake by human retinal pigment epithelial (ARPE-19) cells: mechanism and regulation. 17463047 2007
dbSNP: rs28937595
rs28937595
Entrez Id: 10560
Gene Symbol: SLC19A2
SLC19A2
CUI: C0342287
Disease:
Thiamine responsive megaloblastic anemia syndrome 		T 0.810 CausalMutation CLINVAR Thiamine transporter mutation: an example of monogenic diabetes mellitus. 17132746 2006
dbSNP: rs28937595
rs28937595
Entrez Id: 10560
Gene Symbol: SLC19A2
SLC19A2
CUI: C0342287
Disease:
Thiamine responsive megaloblastic anemia syndrome 		T 0.810 CausalMutation CLINVAR Using transient expression of wild-type and a missense mutant THTR-1 protein, derived from a TRMA family, in different cell lines and immunodetection analysis, we determined the expression, posttranslational modification, and subcellular localization of the wild-type and G172D mutant THTR-1. 12435857 2002
dbSNP: rs28937595
rs28937595
Entrez Id: 10560
Gene Symbol: SLC19A2
SLC19A2
CUI: C0342287
Disease:
Thiamine responsive megaloblastic anemia syndrome 		T 0.810 CausalMutation CLINVAR Functional role of specific amino acid residues in human thiamine transporter SLC19A2: mutational analysis. 12065289 2002
dbSNP: rs28937595
rs28937595
Entrez Id: 10560
Gene Symbol: SLC19A2
SLC19A2
CUI: C0342287
Disease:
Thiamine responsive megaloblastic anemia syndrome 		0.810 GeneticVariation BEFREE Lack of plasma membrane targeting of a G172D mutant thiamine transporter derived from Rogers syndrome family. 12435857 2002
dbSNP: rs28937595
rs28937595
Entrez Id: 10560
Gene Symbol: SLC19A2
SLC19A2
CUI: C0342287
Disease:
Thiamine responsive megaloblastic anemia syndrome 		0.810 GeneticVariation UNIPROT The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families. 10874303 2000
dbSNP: rs28937595
rs28937595
Entrez Id: 10560
Gene Symbol: SLC19A2
SLC19A2
CUI: C0342287
Disease:
Thiamine responsive megaloblastic anemia syndrome 		0.810 GeneticVariation UNIPROT Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness. 10391221 1999
dbSNP: rs28937595
rs28937595
Entrez Id: 10560
Gene Symbol: SLC19A2
SLC19A2
CUI: C0342287
Disease:
Thiamine responsive megaloblastic anemia syndrome 		T 0.810 CausalMutation CLINVAR Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness. 10391221 1999
dbSNP: rs761957186
rs761957186
Entrez Id: 10560
Gene Symbol: SLC19A2
SLC19A2
CUI: C0342287
Disease:
Thiamine responsive megaloblastic anemia syndrome 		0.800 GeneticVariation UNIPROT The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families. 10874303 2000
dbSNP: rs761957186
rs761957186
Entrez Id: 10560
Gene Symbol: SLC19A2
SLC19A2
CUI: C0342287
Disease:
Thiamine responsive megaloblastic anemia syndrome 		0.800 GeneticVariation UNIPROT Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness. 10391221 1999
dbSNP: rs761957186
rs761957186
Entrez Id: 10560
Gene Symbol: SLC19A2
SLC19A2
CUI: C0342287
Disease:
Thiamine responsive megaloblastic anemia syndrome 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1983546
rs1983546
Entrez Id: 10560
Gene Symbol: SLC19A2
SLC19A2
CUI: C0429028
Disease:
QT interval feature (observable entity) 		0.700 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
dbSNP: rs1983546
rs1983546
Entrez Id: 10560
Gene Symbol: SLC19A2
SLC19A2
CUI: C0429028
Disease:
QT interval feature (observable entity) 		G 0.700 GeneticVariation GWASCAT Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. 24952745 2014
dbSNP: rs2038024
rs2038024
Entrez Id: 10560
Gene Symbol: SLC19A2
SLC19A2
CUI: C0600433
Disease:
Activated Protein C Resistance 		0.700 GeneticVariation GWASDB A gene-centric analysis of activated partial thromboplastin time and activated protein C resistance using the HumanCVD focused genotyping array. 23188048 2013
dbSNP: rs2038024
rs2038024
Entrez Id: 10560
Gene Symbol: SLC19A2
SLC19A2
CUI: C1861172
Disease:
Venous Thromboembolism 		0.700 GeneticVariation GWASDB A genome-wide association study of venous thromboembolism identifies risk variants in chromosomes 1q24.2 and 9q. 22672568 2012
dbSNP: rs2678166
rs2678166
Entrez Id: 10560
Gene Symbol: SLC19A2
SLC19A2
CUI: C0042487
Disease:
Venous Thrombosis 		0.700 GeneticVariation GWASDB Caution in interpreting results from imputation analysis when linkage disequilibrium extends over a large distance: a case study on venous thrombosis. 22675575 2012
dbSNP: rs2901092
rs2901092
Entrez Id: 10560
Gene Symbol: SLC19A2
SLC19A2
CUI: C1861172
Disease:
Venous Thromboembolism 		0.700 GeneticVariation GWASDB A genome-wide association study of venous thromboembolism identifies risk variants in chromosomes 1q24.2 and 9q. 22672568 2012
dbSNP: rs121908540
rs121908540
Entrez Id: 10560
Gene Symbol: SLC19A2
SLC19A2
CUI: C0342287
Disease:
Thiamine responsive megaloblastic anemia syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1234256852
rs1234256852
Entrez Id: 10560
Gene Symbol: SLC19A2
SLC19A2
CUI: C0342287
Disease:
Thiamine responsive megaloblastic anemia syndrome 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1553211899
rs1553211899
Entrez Id: 10560
Gene Symbol: SLC19A2
SLC19A2
CUI: C0342287
Disease:
Thiamine responsive megaloblastic anemia syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1557894839
rs1557894839
Entrez Id: 10560
Gene Symbol: SLC19A2
SLC19A2
CUI: C0342287
Disease:
Thiamine responsive megaloblastic anemia syndrome 		C 0.700 CausalMutation CLINVAR
dbSNP: rs74315373
rs74315373
Entrez Id: 10560
Gene Symbol: SLC19A2
SLC19A2
CUI: C0342287
Disease:
Thiamine responsive megaloblastic anemia syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs74315374
rs74315374
Entrez Id: 10560
Gene Symbol: SLC19A2
SLC19A2
CUI: C0342287
Disease:
Thiamine responsive megaloblastic anemia syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs74315375
rs74315375
Entrez Id: 10560
Gene Symbol: SLC19A2
SLC19A2
CUI: C0342287
Disease:
Thiamine responsive megaloblastic anemia syndrome 		T 0.700 CausalMutation CLINVAR