Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854141
rs137854141
TSC2
C 0.700 CausalMutation CLINVAR Clinical and molecular description of a Wilms tumor in a patient with tuberous sclerosis complex. 21567926

2011
dbSNP: rs137854141
rs137854141
TSC2
C 0.700 CausalMutation CLINVAR Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex. 15798777

2005
dbSNP: rs137854141
rs137854141
TSC2
C 0.700 CausalMutation CLINVAR Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. 11112665

2001