DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Transitional cell carcinoma of bladder ×

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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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs1057519780

rs1057519780

MTOR

1.000

0.120

1

11127800

missense variant

C/T

snv

CUI:	C0279680
Disease:	Transitional cell carcinoma of bladder

Transitional cell carcinoma of bladder

0.700

1.000

2014

2014

dbSNP:

rs587777900

rs587777900

MTOR

1.000

0.120

1

11114363

missense variant

C/T

snv

CUI:	C0279680
Disease:	Transitional cell carcinoma of bladder

Transitional cell carcinoma of bladder

0.700

1.000

2014

2014