rs201623252, ASS1

N. diseases: 2
Disease: Citrullinemia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Citrullinemia
CUI: C0175683
Disease: Citrullinemia
0.010 GeneticVariation BEFREE The authors present a case of citrullinemia with a genotype of argininosuccinate synthetase (ASS1), c.380 G>A (p.R127Q)/c.380 G>A (p.R127Q), in two alleles. 25443352 2014