DisGeNET - a database of gene-disease associations

rs45517169, TSC2

N. diseases: 2

Source: CURATED ×

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

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

TUBEROUS SCLEROSIS 2 (disorder)

CUI:	C1860707
Disease:	TUBEROUS SCLEROSIS 2 (disorder)

250

0.925

0.120

16

2062982

stop gained

C/T

snv

0.700

1.000

1999

2017

Tuberous Sclerosis

CUI:	C0041341
Disease:	Tuberous Sclerosis

20

0.925

0.120

16

2062982

stop gained

C/T

snv

0.700