Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11568520
rs11568520
SLC22A5 ; MIR3936HG
G 0.800 CausalMutation CLINVAR Analysis of genetic mutations in Chinese patients with systemic primary carnitine deficiency. 25132046

2014
dbSNP: rs11568520
rs11568520
SLC22A5 ; MIR3936HG
G 0.800 CausalMutation CLINVAR Carnitine uptake defect (primary carnitine deficiency): risk in genotype-phenotype correlation. 23520115

2013
dbSNP: rs11568520
rs11568520
SLC22A5 ; MIR3936HG
G 0.800 GeneticVariation CLINVAR Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening. 20074989

2010
dbSNP: rs11568520
rs11568520
SLC22A5 ; MIR3936HG
G 0.800 CausalMutation CLINVAR Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency. 20574985

2010
dbSNP: rs11568520
rs11568520
SLC22A5 ; MIR3936HG
G 0.800 CausalMutation CLINVAR Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening. 20074989

2010
dbSNP: rs11568520
rs11568520
SLC22A5 ; MIR3936HG
G 0.800 CausalMutation CLINVAR Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5). 16931768

2006
dbSNP: rs11568520
rs11568520
SLC22A5 ; MIR3936HG
G 0.800 GeneticVariation CLINVAR Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5). 16931768

2006
dbSNP: rs11568520
rs11568520
SLC22A5 ; MIR3936HG
0.800 GeneticVariation UNIPROT