Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201889294
rs201889294
FBXL4
A 0.700 CausalMutation CLINVAR Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene. 27099744

2016
dbSNP: rs201889294
rs201889294
FBXL4
A 0.700 CausalMutation CLINVAR New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. 27290639

2016
dbSNP: rs201889294
rs201889294
FBXL4
A 0.700 CausalMutation CLINVAR Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance. 23993193

2013