DisGeNET - a database of gene-disease associations

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8, C1837471

Variant: rs199474707 ×

Source: ALL

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs199474707

MYL3

0.700

GeneticVariation

CLINVAR

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

27532257

2017

dbSNP:

rs199474707

MYL3

0.700

GeneticVariation

CLINVAR

Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.

25611685

2015

dbSNP:

rs199474707

MYL3

0.700

GeneticVariation

CLINVAR

Genetics of hypertrophic cardiomyopathy in Norway.

24111713

2014

dbSNP:

rs199474707

MYL3

0.700

GeneticVariation

CLINVAR

Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart Study.

16754800

2006