Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs45517308
rs45517308
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		G 0.700 CausalMutation CLINVAR Assessment of Tuberous Sclerosis Complex Associated With Renal Lesions by Targeted Next-generation Sequencing in Mainland China. 28065512

2017
dbSNP: rs45517308
rs45517308
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		G 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs45517308
rs45517308
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		G 0.700 CausalMutation CLINVAR Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex. 24271014

2014
dbSNP: rs45517308
rs45517308
TSC2
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		A 0.700 CausalMutation CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333

2011
dbSNP: rs45517308
rs45517308
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		G 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: rs45517308
rs45517308
TSC2
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		A 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