Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs45517169
rs45517169
TSC2
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		T 0.700 CausalMutation CLINVAR Assessment of Tuberous Sclerosis Complex Associated With Renal Lesions by Targeted Next-generation Sequencing in Mainland China. 28065512

2017
dbSNP: rs45517169
rs45517169
TSC2
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		T 0.700 CausalMutation CLINVAR Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2. 25782670

2015
dbSNP: rs45517169
rs45517169
TSC2
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		T 0.700 CausalMutation CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333

2011
dbSNP: rs45517169
rs45517169
TSC2
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		T 0.700 CausalMutation CLINVAR High-resolution melting analysis is a more effective approach for screening TSC genes mutations. 21510812

2011
dbSNP: rs45517169
rs45517169
TSC2
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		T 0.700 CausalMutation CLINVAR Analysis of TSC cortical tubers by deep sequencing of TSC1, TSC2 and KRAS demonstrates that small second-hit mutations in these genes are rare events. 20633017

2010
dbSNP: rs45517169
rs45517169
TSC2
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		T 0.700 CausalMutation CLINVAR Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. 17304050

2007
dbSNP: rs45517169
rs45517169
TSC2
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		T 0.700 CausalMutation CLINVAR Somatic mosaicism is rare in unaffected parents of patients with sporadic tuberous sclerosis. 15121797

2004
dbSNP: rs45517169
rs45517169
TSC2
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		T 0.700 CausalMutation CLINVAR Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. 11112665

2001
dbSNP: rs45517169
rs45517169
TSC2
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		T 0.700 CausalMutation CLINVAR Germ-line mosaicism in tuberous sclerosis: how common? 10090883

1999