rs1567489890, TSC2

N. diseases: 3
Source: CURATED ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
TUBEROUS SCLEROSIS 2 (disorder)
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
0.700 CausalMutation CLINVAR Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations. 25927202 2015
TUBEROUS SCLEROSIS 2 (disorder)
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
0.700 CausalMutation CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333 2011
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.700 GeneticVariation CLINVAR
Cortical tubers
CUI: C1968959
Disease: Cortical tubers
0.700 GeneticVariation CLINVAR