rs397515225, TSC2

N. diseases: 1
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 To the best of our knowledge, this is the first report of the c.3599G>C (p.R1200P) variant in exon 29 of the TSC2 gene related to a severe clinical course and multiple kidney transplants in a patient with TSC. 29308833 2017