SLC1A1, solute carrier family 1 member 1, 6505

N. diseases: 53; N. variants: 4
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777696
rs587777696
Entrez Id: 6505;55064
Gene Symbol: SLC1A1;SPATA6L
SLC1A1;SPATA6L
CUI: C1857253
Disease:
Dicarboxylicaminoaciduria 		0.810 GeneticVariation UNIPROT Here we report that SLC1A1 mutations leading to substitution of arginine to tryptophan at position 445 (R445W) and deletion of isoleucine at position 395 (I395del) cause human dicarboxylic aminoaciduria, an autosomal recessive disorder of urinary glutamate and aspartate transport that can be associated with mental retardation. 21123949 2011
dbSNP: rs587777696
rs587777696
Entrez Id: 6505;55064
Gene Symbol: SLC1A1;SPATA6L
SLC1A1;SPATA6L
CUI: C1857253
Disease:
Dicarboxylicaminoaciduria 		T 0.810 CausalMutation CLINVAR
dbSNP: rs1471786
rs1471786
Entrez Id: 6505;55064
Gene Symbol: SLC1A1;SPATA6L
SLC1A1;SPATA6L
CUI: C0036341
Disease:
Schizophrenia 		G 0.700 GeneticVariation GWASCAT Five novel loci associated with antipsychotic treatment response in patients with schizophrenia: a genome-wide association study. 29503163 2018
dbSNP: rs16921385
rs16921385
Entrez Id: 6505
Gene Symbol: SLC1A1
SLC1A1
CUI: C0036341
Disease:
Schizophrenia 		A 0.700 GeneticVariation GWASCAT Five novel loci associated with antipsychotic treatment response in patients with schizophrenia: a genome-wide association study. 29503163 2018
dbSNP: rs587777697
rs587777697
Entrez Id: 6505;55064
Gene Symbol: SLC1A1;SPATA6L
SLC1A1;SPATA6L
CUI: C1857253
Disease:
Dicarboxylicaminoaciduria 		G 0.700 CausalMutation CLINVAR