Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs60376624
rs60376624
SLC22A5
G 0.810 CausalMutation CLINVAR Genotype-phenotype correlation in primary carnitine deficiency. 21922592

2012
dbSNP: rs60376624
rs60376624
SLC22A5
G 0.810 GeneticVariation CLINVAR SLC22A5 mutations in a patient with systemic primary carnitine deficiency: the first Korean case confirmed by biochemical and molecular investigation. 23090741

2012
dbSNP: rs60376624
rs60376624
SLC22A5
G 0.810 CausalMutation CLINVAR SLC22A5 mutations in a patient with systemic primary carnitine deficiency: the first Korean case confirmed by biochemical and molecular investigation. 23090741

2012
dbSNP: rs60376624
rs60376624
SLC22A5
G 0.810 CausalMutation CLINVAR Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency. 20574985

2010
dbSNP: rs60376624
rs60376624
SLC22A5
G 0.810 CausalMutation CLINVAR Analysis of the SLC22A5 gene revealed that p.S467C was the most common mutation in mothers with CUD, while p.R254X was the most common mutation in newborns and children with CUD. 20074989

2010
dbSNP: rs60376624
rs60376624
SLC22A5
0.810 GeneticVariation BEFREE Analysis of the SLC22A5 gene revealed that p.S467C was the most common mutation in mothers with CUD, while p.R254X was the most common mutation in newborns and children with CUD. 20074989

2010
dbSNP: rs60376624
rs60376624
SLC22A5
G 0.810 GeneticVariation CLINVAR Genetic variations of the SLC22A5 gene in the Chinese and Indian populations of Singapore. 20208395

2010
dbSNP: rs60376624
rs60376624
SLC22A5
G 0.810 CausalMutation CLINVAR Studies on functional sites of organic cation/carnitine transporter OCTN2 (SLC22A5) using a Ser467Cys mutant protein. 12183691

2002
dbSNP: rs60376624
rs60376624
SLC22A5
G 0.810 GeneticVariation CLINVAR 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: rs60376624
rs60376624
SLC22A5
G 0.810 CausalMutation CLINVAR 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: rs60376624
rs60376624
SLC22A5
0.810 GeneticVariation UNIPROT

dbSNP: rs151231558
rs151231558
SLC22A5
T 0.800 CausalMutation CLINVAR Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project. 30609409

2019
dbSNP: rs151231558
rs151231558
SLC22A5
T 0.800 CausalMutation CLINVAR Genomic sequencing identifies secondary findings in a cohort of parent study participants. 29790872

2018
dbSNP: rs121908888
rs121908888
SLC22A5
0.800 GeneticVariation UNIPROT Functional and molecular studies in primary carnitine deficiency. 28841266

2017
dbSNP: rs121908889
rs121908889
SLC22A5
A 0.800 CausalMutation CLINVAR Functional and molecular studies in primary carnitine deficiency. 28841266

2017
dbSNP: rs121908889
rs121908889
SLC22A5
0.800 GeneticVariation UNIPROT Functional and molecular studies in primary carnitine deficiency. 28841266

2017
dbSNP: rs121908890
rs121908890
SLC22A5
0.800 GeneticVariation UNIPROT Functional and molecular studies in primary carnitine deficiency. 28841266

2017
dbSNP: rs121908890
rs121908890
SLC22A5
T 0.800 CausalMutation CLINVAR Functional and molecular studies in primary carnitine deficiency. 28841266

2017
dbSNP: rs121908891
rs121908891
SLC22A5
0.800 GeneticVariation UNIPROT Functional and molecular studies in primary carnitine deficiency. 28841266

2017
dbSNP: rs144547521
rs144547521
SLC22A5
0.800 GeneticVariation UNIPROT Functional and molecular studies in primary carnitine deficiency. 28841266

2017
dbSNP: rs151231558
rs151231558
SLC22A5
0.800 GeneticVariation UNIPROT Functional and molecular studies in primary carnitine deficiency. 28841266

2017
dbSNP: rs151231558
rs151231558
SLC22A5
T 0.800 CausalMutation CLINVAR Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California. 28711408

2017
dbSNP: rs151231558
rs151231558
SLC22A5
T 0.800 CausalMutation CLINVAR Functional and molecular studies in primary carnitine deficiency. 28841266

2017
dbSNP: rs185551386
rs185551386
SLC22A5
A 0.800 GeneticVariation CLINVAR Functional and molecular studies in primary carnitine deficiency. 28841266

2017
dbSNP: rs185551386
rs185551386
SLC22A5
0.800 GeneticVariation UNIPROT Functional and molecular studies in primary carnitine deficiency. 28841266

2017