SLC6A8, solute carrier family 6 member 8, 6535

N. diseases: 274; N. variants: 27
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs122453114
rs122453114
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C1845862
Disease:
Creatine deficiency, X-linked 		0.800 GeneticVariation UNIPROT Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene. 25861866 2015
dbSNP: rs122453115
rs122453115
Entrez Id: 6535;139728
Gene Symbol: SLC6A8;PNCK
SLC6A8;PNCK
CUI: C1845862
Disease:
Creatine deficiency, X-linked 		0.800 GeneticVariation UNIPROT Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene. 25861866 2015
dbSNP: rs122453116
rs122453116
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C1845862
Disease:
Creatine deficiency, X-linked 		0.800 GeneticVariation UNIPROT Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene. 25861866 2015
dbSNP: rs122453117
rs122453117
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C1845862
Disease:
Creatine deficiency, X-linked 		0.800 GeneticVariation UNIPROT Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene. 25861866 2015
dbSNP: rs122453118
rs122453118
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C1845862
Disease:
Creatine deficiency, X-linked 		0.800 GeneticVariation UNIPROT Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene. 25861866 2015
dbSNP: rs397515559
rs397515559
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C1845862
Disease:
Creatine deficiency, X-linked 		T 0.800 CausalMutation CLINVAR A reduced creatine peak on brain magnetic resonance spectroscopy and a known pathogenic mutation in the SLC6A8 gene (c.1661 C > T;p.Pro554Leu) confirmed the diagnosis of CRTR-D. 25803912 2015
dbSNP: rs397515559
rs397515559
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C1845862
Disease:
Creatine deficiency, X-linked 		0.800 GeneticVariation UNIPROT Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene. 25861866 2015
dbSNP: rs122453114
rs122453114
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C1845862
Disease:
Creatine deficiency, X-linked 		0.800 GeneticVariation UNIPROT Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes. 23660394 2013
dbSNP: rs122453114
rs122453114
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C1845862
Disease:
Creatine deficiency, X-linked 		0.800 GeneticVariation UNIPROT Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing. 24123876 2013
dbSNP: rs122453115
rs122453115
Entrez Id: 6535;139728
Gene Symbol: SLC6A8;PNCK
SLC6A8;PNCK
CUI: C1845862
Disease:
Creatine deficiency, X-linked 		0.800 GeneticVariation UNIPROT Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes. 23660394 2013
dbSNP: rs122453115
rs122453115
Entrez Id: 6535;139728
Gene Symbol: SLC6A8;PNCK
SLC6A8;PNCK
CUI: C1845862
Disease:
Creatine deficiency, X-linked 		0.800 GeneticVariation UNIPROT Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing. 24123876 2013
dbSNP: rs122453116
rs122453116
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C1845862
Disease:
Creatine deficiency, X-linked 		0.800 GeneticVariation UNIPROT Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing. 24123876 2013
dbSNP: rs122453116
rs122453116
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C1845862
Disease:
Creatine deficiency, X-linked 		0.800 GeneticVariation UNIPROT Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes. 23660394 2013
dbSNP: rs122453117
rs122453117
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C1845862
Disease:
Creatine deficiency, X-linked 		0.800 GeneticVariation UNIPROT Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes. 23660394 2013
dbSNP: rs122453117
rs122453117
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C1845862
Disease:
Creatine deficiency, X-linked 		0.800 GeneticVariation UNIPROT Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing. 24123876 2013
dbSNP: rs122453118
rs122453118
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C1845862
Disease:
Creatine deficiency, X-linked 		0.800 GeneticVariation UNIPROT Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes. 23660394 2013
dbSNP: rs122453118
rs122453118
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C1845862
Disease:
Creatine deficiency, X-linked 		0.800 GeneticVariation UNIPROT Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing. 24123876 2013
dbSNP: rs397515559
rs397515559
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C1845862
Disease:
Creatine deficiency, X-linked 		T 0.800 CausalMutation CLINVAR Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes. 23660394 2013
dbSNP: rs397515559
rs397515559
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C1845862
Disease:
Creatine deficiency, X-linked 		0.800 GeneticVariation UNIPROT Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes. 23660394 2013
dbSNP: rs397515559
rs397515559
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C1845862
Disease:
Creatine deficiency, X-linked 		0.800 GeneticVariation UNIPROT Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing. 24123876 2013
dbSNP: rs122453114
rs122453114
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C1845862
Disease:
Creatine deficiency, X-linked 		0.800 GeneticVariation UNIPROT Diagnostic exome sequencing in persons with severe intellectual disability. 23033978 2012
dbSNP: rs122453115
rs122453115
Entrez Id: 6535;139728
Gene Symbol: SLC6A8;PNCK
SLC6A8;PNCK
CUI: C1845862
Disease:
Creatine deficiency, X-linked 		0.800 GeneticVariation UNIPROT Diagnostic exome sequencing in persons with severe intellectual disability. 23033978 2012
dbSNP: rs122453116
rs122453116
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C1845862
Disease:
Creatine deficiency, X-linked 		0.800 GeneticVariation UNIPROT Diagnostic exome sequencing in persons with severe intellectual disability. 23033978 2012
dbSNP: rs122453117
rs122453117
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C1845862
Disease:
Creatine deficiency, X-linked 		0.800 GeneticVariation UNIPROT Diagnostic exome sequencing in persons with severe intellectual disability. 23033978 2012
dbSNP: rs122453118
rs122453118
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C1845862
Disease:
Creatine deficiency, X-linked 		0.800 GeneticVariation UNIPROT Diagnostic exome sequencing in persons with severe intellectual disability. 23033978 2012