SLC6A19, solute carrier family 6 member 19, 340024

N. diseases: 54; N. variants: 18
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434346
rs121434346
Entrez Id: 340024
Gene Symbol: SLC6A19
SLC6A19
CUI: C0018609
Disease:
Hartnup Disease 		0.810 GeneticVariation UNIPROT Tissue-specific amino acid transporter partners ACE2 and collectrin differentially interact with hartnup mutations. 19185582 2009
dbSNP: rs121434346
rs121434346
Entrez Id: 340024
Gene Symbol: SLC6A19
SLC6A19
CUI: C0018609
Disease:
Hartnup Disease 		A 0.810 CausalMutation CLINVAR Tissue-specific amino acid transporter partners ACE2 and collectrin differentially interact with hartnup mutations. 19185582 2009
dbSNP: rs121434346
rs121434346
Entrez Id: 340024
Gene Symbol: SLC6A19
SLC6A19
CUI: C0018609
Disease:
Hartnup Disease 		A 0.810 CausalMutation CLINVAR Further evidence for allelic heterogeneity in Hartnup disorder. 18484095 2008
dbSNP: rs121434346
rs121434346
Entrez Id: 340024
Gene Symbol: SLC6A19
SLC6A19
CUI: C0018609
Disease:
Hartnup Disease 		0.810 GeneticVariation UNIPROT Further evidence for allelic heterogeneity in Hartnup disorder. 18484095 2008
dbSNP: rs121434346
rs121434346
Entrez Id: 340024
Gene Symbol: SLC6A19
SLC6A19
CUI: C0018609
Disease:
Hartnup Disease 		0.810 GeneticVariation UNIPROT A protein complex in the brush-border membrane explains a Hartnup disorder allele. 18424768 2008
dbSNP: rs121434346
rs121434346
Entrez Id: 340024
Gene Symbol: SLC6A19
SLC6A19
CUI: C0018609
Disease:
Hartnup Disease 		A 0.810 CausalMutation CLINVAR Persistence of the common Hartnup disease D173N allele in populations of European origin. 17555458 2007
dbSNP: rs121434346
rs121434346
Entrez Id: 340024
Gene Symbol: SLC6A19
SLC6A19
CUI: C0018609
Disease:
Hartnup Disease 		0.810 GeneticVariation BEFREE Persistence of the common Hartnup disease D173N allele in populations of European origin. 17555458 2007
dbSNP: rs121434346
rs121434346
Entrez Id: 340024
Gene Symbol: SLC6A19
SLC6A19
CUI: C0018609
Disease:
Hartnup Disease 		0.810 GeneticVariation UNIPROT Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder. 15286787 2004
dbSNP: rs121434346
rs121434346
Entrez Id: 340024
Gene Symbol: SLC6A19
SLC6A19
CUI: C0018609
Disease:
Hartnup Disease 		0.810 GeneticVariation UNIPROT Population frequencies for the most common mutated SLC6A19 alleles are 0.007 for 517G --> A and 0.001 for 718C --> T. Our findings indicate that SLC6A19 is the long-sought gene that is mutated in Hartnup disorder; its identification provides the opportunity to examine the inconsistent multisystemic features of this disorder. 15286788 2004
dbSNP: rs121434346
rs121434346
Entrez Id: 340024
Gene Symbol: SLC6A19
SLC6A19
CUI: C0018609
Disease:
Hartnup Disease 		A 0.810 CausalMutation CLINVAR Population frequencies for the most common mutated SLC6A19 alleles are 0.007 for 517G --> A and 0.001 for 718C --> T. Our findings indicate that SLC6A19 is the long-sought gene that is mutated in Hartnup disorder; its identification provides the opportunity to examine the inconsistent multisystemic features of this disorder. 15286788 2004
dbSNP: rs79784189
rs79784189
Entrez Id: 340024
Gene Symbol: SLC6A19
SLC6A19
CUI: C0427460
Disease:
Red cell distribution width determination 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs79784189
rs79784189
Entrez Id: 340024
Gene Symbol: SLC6A19
SLC6A19
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1251095994
rs1251095994
Entrez Id: 340024
Gene Symbol: SLC6A19
SLC6A19
CUI: C0018609
Disease:
Hartnup Disease 		0.700 GeneticVariation UNIPROT Tissue-specific amino acid transporter partners ACE2 and collectrin differentially interact with hartnup mutations. 19185582 2009
dbSNP: rs148139045
rs148139045
Entrez Id: 340024
Gene Symbol: SLC6A19
SLC6A19
CUI: C0018609
Disease:
Hartnup Disease 		0.700 GeneticVariation UNIPROT Tissue-specific amino acid transporter partners ACE2 and collectrin differentially interact with hartnup mutations. 19185582 2009
dbSNP: rs200745023
rs200745023
Entrez Id: 340024
Gene Symbol: SLC6A19
SLC6A19
CUI: C0018609
Disease:
Hartnup Disease 		0.700 GeneticVariation UNIPROT Tissue-specific amino acid transporter partners ACE2 and collectrin differentially interact with hartnup mutations. 19185582 2009
dbSNP: rs200842846
rs200842846
Entrez Id: 340024
Gene Symbol: SLC6A19
SLC6A19
CUI: C0018609
Disease:
Hartnup Disease 		0.700 GeneticVariation UNIPROT Tissue-specific amino acid transporter partners ACE2 and collectrin differentially interact with hartnup mutations. 19185582 2009
dbSNP: rs745524993
rs745524993
Entrez Id: 340024
Gene Symbol: SLC6A19
SLC6A19
CUI: C0018609
Disease:
Hartnup Disease 		0.700 GeneticVariation UNIPROT Tissue-specific amino acid transporter partners ACE2 and collectrin differentially interact with hartnup mutations. 19185582 2009
dbSNP: rs757679627
rs757679627
Entrez Id: 340024
Gene Symbol: SLC6A19
SLC6A19
CUI: C0018609
Disease:
Hartnup Disease 		0.700 GeneticVariation UNIPROT Tissue-specific amino acid transporter partners ACE2 and collectrin differentially interact with hartnup mutations. 19185582 2009
dbSNP: rs762989809
rs762989809
Entrez Id: 340024
Gene Symbol: SLC6A19
SLC6A19
CUI: C0018609
Disease:
Hartnup Disease 		0.700 GeneticVariation UNIPROT Tissue-specific amino acid transporter partners ACE2 and collectrin differentially interact with hartnup mutations. 19185582 2009
dbSNP: rs765501634
rs765501634
Entrez Id: 340024
Gene Symbol: SLC6A19
SLC6A19
CUI: C0018609
Disease:
Hartnup Disease 		0.700 GeneticVariation UNIPROT Tissue-specific amino acid transporter partners ACE2 and collectrin differentially interact with hartnup mutations. 19185582 2009
dbSNP: rs1251095994
rs1251095994
Entrez Id: 340024
Gene Symbol: SLC6A19
SLC6A19
CUI: C0018609
Disease:
Hartnup Disease 		0.700 GeneticVariation UNIPROT A protein complex in the brush-border membrane explains a Hartnup disorder allele. 18424768 2008
dbSNP: rs1251095994
rs1251095994
Entrez Id: 340024
Gene Symbol: SLC6A19
SLC6A19
CUI: C0018609
Disease:
Hartnup Disease 		0.700 GeneticVariation UNIPROT Further evidence for allelic heterogeneity in Hartnup disorder. 18484095 2008
dbSNP: rs148139045
rs148139045
Entrez Id: 340024
Gene Symbol: SLC6A19
SLC6A19
CUI: C0018609
Disease:
Hartnup Disease 		0.700 GeneticVariation UNIPROT Further evidence for allelic heterogeneity in Hartnup disorder. 18484095 2008
dbSNP: rs148139045
rs148139045
Entrez Id: 340024
Gene Symbol: SLC6A19
SLC6A19
CUI: C0018609
Disease:
Hartnup Disease 		0.700 GeneticVariation UNIPROT A protein complex in the brush-border membrane explains a Hartnup disorder allele. 18424768 2008
dbSNP: rs200745023
rs200745023
Entrez Id: 340024
Gene Symbol: SLC6A19
SLC6A19
CUI: C0018609
Disease:
Hartnup Disease 		0.700 GeneticVariation UNIPROT Further evidence for allelic heterogeneity in Hartnup disorder. 18484095 2008