Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs374514431
rs374514431
NFU1
0.010 GeneticVariation BEFREE Patients with autosome recessive inheritance of NFU1 mutation G208C have reduced activity of the respiratory chain complex II, lipoic-acid dependent enzymes, and develop pulmonary arterial hypertension (PAH) in ~ 70% of cases. 31461310

2020