Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908603
rs121908603
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
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

dbSNP: rs146423225
rs146423225
0.010 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: rs121908604
rs121908604
0.010 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