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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.020 GeneticVariation BEFREE Our report brings the total number of families who harbor MTOR p.E1799K in association with megalencephaly and ID to three. 26542245

2015