rs1276834647, STRA6

N. diseases: 2
Disease: Congenital diaphragmatic hernia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital diaphragmatic hernia
CUI: C0235833
Disease: Congenital diaphragmatic hernia
0.010 GeneticVariation BEFREE Surprisingly, three unrelated subjects with microphthalmia and diaphragmatic hernia showed de novo missense mutations affecting the same codon; two of the subjects had the c.1159C>T (Arg387Cys) mutation, whereas the other one carried the c.1159C>A (p.Arg387Ser) mutation. 24075189 2013