Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909236
rs121909236
PTEN
CUI: C2749240
Disease: Vater Association With Macrocephaly And Ventriculomegaly
Vater Association With Macrocephaly And Ventriculomegaly 		0.010 GeneticVariation BEFREE To this expanding array of clinically distinct phenotypes associated with PTEN mutations, we now report a novel heterozygous germline mutation, H61D, in a patient with features of VATER association with macrocephaly and ventriculomegaly. 11748304

2001