rs118203542, TSC1

N. diseases: 4
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 This is the first report of TSC1 R509X mutation in a Chinese family, which might deepen our insight into the clinical and molecular pathogenesis of tuberous sclerosis complex. 25900779 2015