DisGeNET - a database of gene-disease associations

Source: CLINVAR

Gene: TECRL ×

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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs773204795

TECRL

0.882

0.120

64309896

missense variant

C/T

snv

2.4E-05

2.1E-05

CUI:	C3151463
Disease:	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3

VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3

0.800

1.000

2016

dbSNP:

rs1057517699

TECRL

1.000

64328511

splice donor variant

C/T

snv

CUI:	C3151463
Disease:	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3

VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3

0.700

dbSNP:

rs773204795

TECRL

0.882

0.120

64309896

missense variant

C/T

snv

2.4E-05

2.1E-05

CUI:	C0023976
Disease:	Long QT Syndrome

Long QT Syndrome

0.700