rs200879349
×
Entrez Id:
10560
Gene Symbol:
SLC19A2
SLC19A2
Thiamine responsive megaloblastic anemia syndrome
0.010
GeneticVariation
BEFREE
Here we describe a loss-of-function <i>SLC19A2</i> mutation (c.A1063C: p.Lys355Gln ) in a family with early-onset diabetes and mild TRMA traits transmitted in an autosomal dominant fashion.
30833467
2019
rs200879349
×
Entrez Id:
10560
Gene Symbol:
SLC19A2
SLC19A2
Diabetes Mellitus
0.010
GeneticVariation
BEFREE
Here we describe a loss-of-function <i>SLC19A2</i> mutation (c.A1063C: p.Lys355Gln ) in a family with early-onset diabetes and mild TRMA traits transmitted in an autosomal dominant fashion.
30833467
2019
rs200879349
×
Entrez Id:
10560
Gene Symbol:
SLC19A2
SLC19A2
Diabetes
0.010
GeneticVariation
BEFREE
Here we describe a loss-of-function <i>SLC19A2</i> mutation (c.A1063C: p.Lys355Gln ) in a family with early-onset diabetes and mild TRMA traits transmitted in an autosomal dominant fashion.
30833467
2019
rs1983546
×
Entrez Id:
10560
Gene Symbol:
SLC19A2
SLC19A2
QT interval feature (observable entity)
0.700
GeneticVariation
GWASCAT
Genetic analyses of diverse populations improves discovery for complex traits.
31217584
2019
rs1983546
×
Entrez Id:
10560
Gene Symbol:
SLC19A2
SLC19A2
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
rs2038024
×
Entrez Id:
10560
Gene Symbol:
SLC19A2
SLC19A2
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
rs2038024
×
Entrez Id:
10560
Gene Symbol:
SLC19A2
SLC19A2
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
rs2678166
×
Entrez Id:
10560
Gene Symbol:
SLC19A2
SLC19A2
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
rs2901092
×
Entrez Id:
10560
Gene Symbol:
SLC19A2
SLC19A2
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
rs121908540
×
Entrez Id:
10560
Gene Symbol:
SLC19A2
SLC19A2
Thiamine responsive megaloblastic anemia syndrome
A
0.700
CausalMutation
CLINVAR
rs1234256852
×
Entrez Id:
10560
Gene Symbol:
SLC19A2
SLC19A2
Thiamine responsive megaloblastic anemia syndrome
C
0.700
GeneticVariation
CLINVAR
rs1553211899
×
Entrez Id:
10560
Gene Symbol:
SLC19A2
SLC19A2
Thiamine responsive megaloblastic anemia syndrome
T
0.700
CausalMutation
CLINVAR
rs1557894839
×
Entrez Id:
10560
Gene Symbol:
SLC19A2
SLC19A2
Thiamine responsive megaloblastic anemia syndrome
C
0.700
CausalMutation
CLINVAR
rs74315373
×
Entrez Id:
10560
Gene Symbol:
SLC19A2
SLC19A2
Thiamine responsive megaloblastic anemia syndrome
A
0.700
CausalMutation
CLINVAR
rs74315374
×
Entrez Id:
10560
Gene Symbol:
SLC19A2
SLC19A2
Thiamine responsive megaloblastic anemia syndrome
T
0.700
CausalMutation
CLINVAR
rs74315375
×
Entrez Id:
10560
Gene Symbol:
SLC19A2
SLC19A2
Thiamine responsive megaloblastic anemia syndrome
T
0.700
CausalMutation
CLINVAR
rs763099442
×
Entrez Id:
10560
Gene Symbol:
SLC19A2
SLC19A2
Thiamine responsive megaloblastic anemia syndrome
T
0.700
CausalMutation
CLINVAR
rs761957186
×
Entrez Id:
10560
Gene Symbol:
SLC19A2
SLC19A2
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
rs761957186
×
Entrez Id:
10560
Gene Symbol:
SLC19A2
SLC19A2
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
rs761957186
×
Entrez Id:
10560
Gene Symbol:
SLC19A2
SLC19A2
Thiamine responsive megaloblastic anemia syndrome
A
0.800
CausalMutation
CLINVAR
rs28937595
×
Entrez Id:
10560
Gene Symbol:
SLC19A2
SLC19A2
Thiamine responsive megaloblastic anemia syndrome
T
0.810
CausalMutation
CLINVAR
Thiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update.
19643445
2009
rs28937595
×
Entrez Id:
10560
Gene Symbol:
SLC19A2
SLC19A2
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
rs28937595
×
Entrez Id:
10560
Gene Symbol:
SLC19A2
SLC19A2
Thiamine responsive megaloblastic anemia syndrome
T
0.810
CausalMutation
CLINVAR
Thiamine transporter mutation: an example of monogenic diabetes mellitus.
17132746
2006
rs28937595
×
Entrez Id:
10560
Gene Symbol:
SLC19A2
SLC19A2
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
rs28937595
×
Entrez Id:
10560
Gene Symbol:
SLC19A2
SLC19A2
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