rs45517259, TSC2

N. diseases: 3
Disease: Tuberous Sclerosis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Tuberous Sclerosis
CUI: C0041341
Disease: Tuberous Sclerosis
0.010 GeneticVariation BEFREE Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation. 17120248 2006