Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1131691965
rs1131691965
TSC2
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1567387207
rs1567387207
TSC2
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1567437155
rs1567437155
TSC2
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		A 0.700 CausalMutation CLINVAR

dbSNP: rs28934872
rs28934872
TSC2
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		A 0.700 CausalMutation CLINVAR

dbSNP: rs45469298
rs45469298
TSC2
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		T 0.700 CausalMutation CLINVAR

dbSNP: rs45517179
rs45517179
TSC2
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		T 0.700 CausalMutation CLINVAR

dbSNP: rs45517222
rs45517222
TSC2
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		T 0.700 CausalMutation CLINVAR

dbSNP: rs45517395
rs45517395
TSC2
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		A 0.700 CausalMutation CLINVAR

dbSNP: rs45517412
rs45517412
PKD1 ; TSC2
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		T 0.700 CausalMutation CLINVAR

dbSNP: rs745895675
rs745895675
TSC2
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.700 GeneticVariation UNIPROT Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia. 28215400

2017