Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs45516293
rs45516293
TSC2
C 0.700 GeneticVariation CLINVAR Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex. 22903760

2013
dbSNP: rs45516293
rs45516293
TSC2
C 0.700 GeneticVariation CLINVAR 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
dbSNP: rs45516293
rs45516293
TSC2
C 0.700 GeneticVariation CLINVAR A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex. 11403047

2001
dbSNP: rs45516293
rs45516293
TSC2
C 0.700 CausalMutation CLINVAR