Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs202088921
rs202088921
SLC22A5 ; MIR3936HG
0.800 GeneticVariation UNIPROT Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency. 20574985

2010
dbSNP: rs202088921
rs202088921
SLC22A5 ; MIR3936HG
T 0.800 GeneticVariation CLINVAR Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency. 20574985

2010
dbSNP: rs202088921
rs202088921
SLC22A5 ; MIR3936HG
0.800 GeneticVariation UNIPROT Mutations in novel organic cation transporter (OCTN2), an organic cation/carnitine transporter, with differential effects on the organic cation transport function and the carnitine transport function. 10559218

1999
dbSNP: rs202088921
rs202088921
SLC22A5 ; MIR3936HG
0.800 GeneticVariation UNIPROT Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency. 10072434

1999
dbSNP: rs202088921
rs202088921
SLC22A5 ; MIR3936HG
0.800 GeneticVariation UNIPROT Phenotype and genotype variation in primary carnitine deficiency. 11715001

2002
dbSNP: rs202088921
rs202088921
SLC22A5 ; MIR3936HG
T 0.800 CausalMutation CLINVAR Primary Carnitine deficiency in the Faroe Islands: health and cardiac status in 76 adult patients diagnosed by screening. 23963628

2014
dbSNP: rs202088921
rs202088921
SLC22A5 ; MIR3936HG
T 0.800 CausalMutation CLINVAR Primary Carnitine Deficiency Presents Atypically with Long QT Syndrome: A Case Report. 23430858

2012
dbSNP: rs202088921
rs202088921
SLC22A5 ; MIR3936HG
T 0.800 CausalMutation CLINVAR Transient carnitine deficiency was not likely anymore and DNA mutation analysis of the OCTN2 (SLC22A5) gene showed a homozygous c.136C>T (p.P46S) mutation, confirming the diagnosis of primary carnitine deficiency. 23430798

2013
dbSNP: rs202088921
rs202088921
SLC22A5 ; MIR3936HG
T 0.800 GeneticVariation CLINVAR Transient carnitine deficiency was not likely anymore and DNA mutation analysis of the OCTN2 (SLC22A5) gene showed a homozygous c.136C>T (p.P46S) mutation, confirming the diagnosis of primary carnitine deficiency. 23430798

2013
dbSNP: rs202088921
rs202088921
SLC22A5 ; MIR3936HG
0.800 GeneticVariation UNIPROT Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency. 10612840

2000
dbSNP: rs202088921
rs202088921
SLC22A5 ; MIR3936HG
0.800 GeneticVariation UNIPROT Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene. 15714519

2005