DisGeNET - a database of gene-disease associations

Cardiomyopathy, Familial Idiopathic, C1449563

Variant: rs138592977 ×

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

N.diseases _v

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs138592977

rs138592977

LMNA

3

1.000

0.040

1

156135968

missense variant

G/A

snv

5.6E-05

6.3E-05

0.010

1.000

2012

2012