Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064793345
rs1064793345
PTEN
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		C 0.700 GeneticVariation CLINVAR Lifetime cancer risks in individuals with germline PTEN mutations. 22252256

2012
dbSNP: rs1064793345
rs1064793345
PTEN
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		C 0.700 GeneticVariation CLINVAR Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. 22595938

2012