Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs863225264
rs863225264
MTOR
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.020 GeneticVariation BEFREE Finally, a constitutional de novo mutation of MTOR (p.Glu1799Lys) was identified in 3 unrelated children with diffuse megalencephaly and intellectual disability. 27159400

2016
dbSNP: rs863225264
rs863225264
MTOR
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.020 GeneticVariation BEFREE Thus, MTOR p.E1799K can now be classified as a pathogenic GOF mutation that causes megalencephaly</span> and cognitive impairment in humans. 26542245

2015