Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs45517259
rs45517259
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.010 GeneticVariation BEFREE Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation. 17120248

2006