Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs765798990
rs765798990
PIK3CD
CUI: C2720434
Disease: Macroencephaly
Macroencephaly 		0.010 GeneticVariation BEFREE We report the identification and evaluation of a novel de novo constitutional PIK3CA mutation (NM_006218.2:c.335T>A, p.Ile112Asn) in a child with congenital megalencephaly and macrosomia. 26593112

2016
dbSNP: rs765798990
rs765798990
PIK3CD
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.010 GeneticVariation BEFREE We report the identification and evaluation of a novel de novo constitutional PIK3CA mutation (NM_006218.2:c.335T>A, p.Ile112Asn) in a child with congenital megalencephaly and macrosomia. 26593112

2016