Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908106
rs121908106
MYO5B
0.010 GeneticVariation BEFREE We demonstrate that the cholestasis-associated P660L mutation in myoVb caused the intracellular accumulation of bile canalicular proteins in vesicular compartments. 31750554

2019