Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs796052056
rs796052056
CGT 0.700 CausalMutation CLINVAR Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients. 24485043

2014

dbSNP: rs796052056
rs796052056
CGT 0.700 CausalMutation CLINVAR TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome. 21147908

2011

dbSNP: rs796052056
rs796052056
CGT 0.700 CausalMutation CLINVAR TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. 18953340

2008