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: rs763099442
rs763099442
Entrez Id: 10560
Gene Symbol: SLC19A2
SLC19A2
CUI: C0342287
Disease:
Thiamine responsive megaloblastic anemia syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs200879349
rs200879349
Entrez Id: 10560
Gene Symbol: SLC19A2
SLC19A2
CUI: C0342287
Disease:
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
dbSNP: rs200879349
rs200879349
Entrez Id: 10560
Gene Symbol: SLC19A2
SLC19A2
CUI: C0011849
Disease:
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
dbSNP: rs200879349
rs200879349
Entrez Id: 10560
Gene Symbol: SLC19A2
SLC19A2
CUI: C0011847
Disease:
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