Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854218
rs137854218
PKD1 ; TSC2
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		C 0.700 CausalMutation CLINVAR Central TSC2 missense mutations are associated with a reduced risk of infantile spasms. 22867869

2013
dbSNP: rs137854218
rs137854218
PKD1 ; TSC2
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		C 0.700 CausalMutation CLINVAR Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex. 21309039

2011
dbSNP: rs137854218
rs137854218
PKD1 ; TSC2
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		C 0.700 CausalMutation CLINVAR Clinical symptoms of tuberous sclerosis complex in patients with an identical TSC2 mutation. 15874888

2005
dbSNP: rs137854218
rs137854218
PKD1 ; TSC2
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		C 0.700 CausalMutation CLINVAR Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation. 15024740

2004
dbSNP: rs137854218
rs137854218
PKD1 ; TSC2
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		C 0.700 CausalMutation CLINVAR Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis. 10205261

1999
dbSNP: rs137854218
rs137854218
PKD1 ; TSC2
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		C 0.700 CausalMutation CLINVAR Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis. 9829910

1998