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 A novel mutation of the SLC25A13 gene in a Chinese patient with citrin deficiency detected by target next-generation sequencing. 24161253

2014
dbSNP: rs80338722
rs80338722
SLC25A13
T 0.700 CausalMutation CLINVAR Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation. 12424587

2002
dbSNP: rs80338722
rs80338722
SLC25A13
T 0.700 CausalMutation CLINVAR Neonatal presentation of adult-onset type II citrullinemia. 11281457

2001
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