DisGeNET - a database of gene-disease associations

Source: BEFREE

Disease: Tuberous Sclerosis ×

Variant: rs1060500931 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1060500931

rs1060500931

TSC2

CUI:	C0041341
Disease:	Tuberous Sclerosis

Tuberous Sclerosis

0.010

GeneticVariation

BEFREE

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

2012