Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28942074
rs28942074
ATP7B
0.020 GeneticVariation BEFREE In conclusion, WD patients with a single R778L heterozygote mutation can present with ALF as the initial clinical manifestation, and intermittent plasma transfusion combined with chelating therapy may alleviate fulminant WD without LT or ALS. 31010795

2020
dbSNP: rs28942074
rs28942074
ATP7B
0.020 GeneticVariation BEFREE The patients carrying p.R778L presented a higher rate of acute liver failure than the patients without p.R778L (9.7% vs. 4.8%). 31172689

2019