TSC2, TSC complex subunit 2, 7249

N. diseases: 410; N. variants: 317
Disease: Neoplasms ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1567489890
rs1567489890
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0027651
Disease:
Neoplasms 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs773920155
rs773920155
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0027651
Disease:
Neoplasms 		T 0.700 CausalMutation CLINVAR
dbSNP: rs181088346
rs181088346
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0027651
Disease:
Neoplasms 		0.010 GeneticVariation BEFREE Among genes that were prioritized (nominal P < 0.05, ARTP tests), associations were observed for intronic SNPs TSC2 rs181088346 [odds ratio (OR) of each copy of variant allele = 0.77, 95% confidence interval (CI) = 0.65-0.88 for all breast cancer] and BRAF rs114729114 (OR = 1.53, 95% CI = 1.24-1.91 for all breast cancer and OR = 2.03, 95% CI = 1.50-2.76 for ER- tumors). 26577839 2016
dbSNP: rs45507199
rs45507199
Entrez Id: 5310;7249
Gene Symbol: PKD1;TSC2
PKD1;TSC2
CUI: C0027651
Disease:
Neoplasms 		0.010 GeneticVariation BEFREE Molecular analysis of the tumor revealed loss of heterozygosity and allelic mutation (5228G>A, R1743Q) of TSC2. 16237225 2005