Disease: Diaphragmatic Hernia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1276834647
rs1276834647
Entrez Id: 64220
Gene Symbol: STRA6
STRA6
CUI: C0019284
Disease:
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