SLC6A9, solute carrier family 6 member 9, 6536

N. diseases: 71; N. variants: 11
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113551349
rs113551349
Entrez Id: 6536
Gene Symbol: SLC6A9
SLC6A9
CUI: C1263846
Disease:
Attention deficit hyperactivity disorder 		C 0.700 GeneticVariation GWASCAT Attention-deficit/hyperactivity disorder and lifetime cannabis use: genetic overlap and causality. 30610198 2019
dbSNP: rs113551349
rs113551349
Entrez Id: 6536
Gene Symbol: SLC6A9
SLC6A9
CUI: C3160814
Disease:
Cannabis use 		C 0.700 GeneticVariation GWASCAT Attention-deficit/hyperactivity disorder and lifetime cannabis use: genetic overlap and causality. 30610198 2019
dbSNP: rs12037805
rs12037805
Entrez Id: 6536;107984948
Gene Symbol: SLC6A9;LOC107984948
SLC6A9;LOC107984948
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs34282584
rs34282584
Entrez Id: 6536
Gene Symbol: SLC6A9
SLC6A9
CUI: C0524587
Disease:
Mean Corpuscular Volume (result) 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs1057519313
rs1057519313
Entrez Id: 6536
Gene Symbol: SLC6A9
SLC6A9
CUI: C4310943
Disease:
GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE 		C 0.700 CausalMutation CLINVAR Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans. 27481395 2016
dbSNP: rs1057519314
rs1057519314
Entrez Id: 6536
Gene Symbol: SLC6A9
SLC6A9
CUI: C4310943
Disease:
GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE 		A 0.700 CausalMutation CLINVAR Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine. 27773429 2016
dbSNP: rs1057519315
rs1057519315
Entrez Id: 6536
Gene Symbol: SLC6A9
SLC6A9
CUI: C4310943
Disease:
GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE 		A 0.700 CausalMutation CLINVAR Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine. 27773429 2016
dbSNP: rs201437896
rs201437896
Entrez Id: 6536
Gene Symbol: SLC6A9
SLC6A9
CUI: C4310943
Disease:
GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE 		A 0.700 CausalMutation CLINVAR
dbSNP: rs2486001
rs2486001
Entrez Id: 6536
Gene Symbol: SLC6A9
SLC6A9
CUI: C0036341
Disease:
Schizophrenia 		0.010 GeneticVariation BEFREE <b>Conclusion:</b> The results of the present study did not indicate an association of polymorphism-181 A/C (rs4354668) in <i>SLC1A2</i> and rs2486001 in <i>SLC6A9</i> with onset of schizophrenia and its psychopathology in a Polish population. 31118638 2019
dbSNP: rs202227574
rs202227574
Entrez Id: 6536
Gene Symbol: SLC6A9
SLC6A9
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		0.010 GeneticVariation BEFREE Experiments were performed by inducing exocytosis in wild-type (WT) mice, in amphiphysin-I knockout (Amph-I KO) mice, which show impaired endocytosis, or in mice expressing high copy number of mutant human SOD1 with a Gly93Ala substitution (SOD1(G93A)), a model of human amyotrophic lateral sclerosis showing constitutively excessive Glu exocytosis. 25497732 2015
dbSNP: rs2286245
rs2286245
Entrez Id: 6536
Gene Symbol: SLC6A9
SLC6A9
CUI: C0085580
Disease:
Essential Hypertension 		0.010 GeneticVariation BEFREE The allelic frequency of rs2286245 (C versus T, p=0.032) showed significant differences between EH and normotensive controls (NT) groups. 19556729 2009
dbSNP: rs3791124
rs3791124
Entrez Id: 6536
Gene Symbol: SLC6A9
SLC6A9
CUI: C0085580
Disease:
Essential Hypertension 		0.010 GeneticVariation BEFREE The genotypic distribution of rs3791124 in its dominant model (AA+GA versus GG, p=0.027) also showed significant differences between EH and NT groups. 19556729 2009