Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338722
rs80338722
SLC25A13
T 0.700 CausalMutation CLINVAR Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution. 27405544

2016
dbSNP: rs80338722
rs80338722
SLC25A13
T 0.700 CausalMutation CLINVAR Multiple ovarian antral follicles in a preterm infant with neonatal intrahepatic cholestasis caused by citrin deficiency: a clinical, genetic and transcriptional analysis. 22710133

2012
dbSNP: rs80338722
rs80338722
SLC25A13
T 0.700 CausalMutation CLINVAR Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asian populations. 14680984

2003
dbSNP: rs80338722
rs80338722
SLC25A13
T 0.700 CausalMutation CLINVAR The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. 10369257

1999