Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs45517222
rs45517222
TSC2
T 0.700 CausalMutation CLINVAR The analysis of mutations and exon deletions at TSC2 gene in angiomyolipomas associated with tuberous sclerosis complex. 25281918

2014
dbSNP: rs45517222
rs45517222
TSC2
T 0.700 CausalMutation CLINVAR Giant angiofibromas in tuberous sclerosis complex: a possible role for localized lymphedema in their pathogenesis. 22552000

2012
dbSNP: rs45517222
rs45517222
TSC2
T 0.700 CausalMutation CLINVAR Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2. 10735580

1999
dbSNP: rs45517222
rs45517222
TSC2
T 0.700 CausalMutation CLINVAR Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis. 10205261

1999