Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118203478
rs118203478
TSC1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		CA 0.700 CausalMutation CLINVAR Multiple pulmonary artery aneurysms in tuberous sclerosis complex. 23341583

2013
dbSNP: rs118203434
rs118203434
TSC1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Tuberous Sclerosis Complex Associated with Vascular Anomalies or Overgrowth. 27470532

2016