Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854397
rs137854397
PKD1 ; TSC2
C 0.700 CausalMutation CLINVAR Mutational analysis of paediatric patients with tuberous sclerosis complex in Korea: genotype and epilepsy. 25498131

2014
dbSNP: rs137854397
rs137854397
PKD1 ; TSC2
C 0.700 CausalMutation CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333

2011
dbSNP: rs137854397
rs137854397
PKD1 ; TSC2
C 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