DisGeNET - a database of gene-disease associations

Source: ALL

Variant: rs190140598 ×

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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:

rs190140598

RYR2

0.851

0.120

237445488

missense variant

C/A;T

snv

1.2E-05

CUI:	C1631597
Disease:	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)

VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)

0.800

1.000

2002

2017

dbSNP:

rs190140598

RYR2

0.851

0.120

237445488

missense variant

C/A;T

snv

1.2E-05

CUI:	C1832931
Disease:	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2

0.700

dbSNP:

rs190140598

RYR2

0.851

0.120

237445488

missense variant

C/A;T

snv

1.2E-05

CUI:	C4053736
Disease:	Catecholaminergic Polymorphic Ventricular Tachycardia Type 1

Catecholaminergic Polymorphic Ventricular Tachycardia Type 1

0.700

dbSNP:

rs190140598

RYR2

0.851

0.120

237445488

missense variant

C/A;T

snv

1.2E-05

CUI:	C0042510
Disease:	Ventricular Fibrillation

Ventricular Fibrillation

0.700