Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72552726
rs72552726
SLC22A5 ; MIR3936HG
0.800 GeneticVariation UNIPROT Expanded newborn screening identifies maternal primary carnitine deficiency. 17126586

2007
dbSNP: rs72552726
rs72552726
SLC22A5 ; MIR3936HG
0.800 GeneticVariation UNIPROT Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening. 20074989

2010
dbSNP: rs72552726
rs72552726
SLC22A5 ; MIR3936HG
0.800 GeneticVariation UNIPROT Phenotype and genotype variation in primary carnitine deficiency. 11715001

2002
dbSNP: rs72552726
rs72552726
SLC22A5 ; MIR3936HG
0.800 GeneticVariation UNIPROT Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects. 20027113

2010
dbSNP: rs72552726
rs72552726
SLC22A5 ; MIR3936HG
0.800 GeneticVariation UNIPROT Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency. 10545605

1999
dbSNP: rs72552726
rs72552726
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: rs72552726
rs72552726
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
dbSNP: rs72552726
rs72552726
SLC22A5 ; MIR3936HG
0.800 GeneticVariation UNIPROT Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency. 20574985

2010