DisGeNET - a database of gene-disease associations

Cardiomyopathy, Familial Hypertrophic, 2, C1861864

Variant: rs863225119 ×

Source: ALL

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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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs863225119

rs863225119

TNNT2

0.800

GeneticVariation

UNIPROT

Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).

2011

dbSNP:

rs863225119

rs863225119

TNNT2

A

0.800

GeneticVariation

CLINVAR