Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1177389968
rs1177389968
ETFDH
0.020 GeneticVariation BEFREE These results help to clarify the molecular pathogenesis of MADD as a result of the high frequency of the <i>ETFDH</i> c.250G>A and c.92C>T mutations. 30709034

2019
dbSNP: rs1177389968
rs1177389968
ETFDH
0.020 GeneticVariation BEFREE Neurite shortening caused by the c.250G>A mutation in ETFDH suggests that neural defects could be underdiagnosed in human patients with MADD. 27935074

2017