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 		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