DisGeNET - a database of gene-disease associations

Tuberous Sclerosis, C0041341

Variant: rs1114167462 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1114167462

rs1114167462

TSC2

0.010

GeneticVariation

BEFREE

Family 2 had two children with tuberous sclerosis (TSC2 C1327T) and two healthy children.

2012