rs397514916, TSC2

N. diseases: 1
Source: BEFREE ×
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 Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds. 21332470 2012