Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908603
rs121908603
ZFPM2 ; ZFPM2-AS1
0.020 GeneticVariation BEFREE The other two mutations (p.M703L and p.Q889E) were reported in patients with congenital diaphragmatic hernia but not in patients with CHD. 21919901

2012
dbSNP: rs121908603
rs121908603
ZFPM2 ; ZFPM2-AS1
0.020 GeneticVariation BEFREE For FOG2, we identified novel sequence alterations predicting p.M703L and p.T843A in two patients with isolated CDH that were absent in 526 and 564 control chromosomes respectively. 17568391

2007