DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Hereditary Myopathy with Early Respiratory Failure ×

Gene: TTN-AS1 ×

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:

rs869320740

TTN ; TTN-AS1

0.851

0.200

178546102

missense variant

A/G

snv

4.1E-06

CUI:	C1863599
Disease:	Hereditary Myopathy with Early Respiratory Failure

Hereditary Myopathy with Early Respiratory Failure

0.730

1.000

2014

2016

dbSNP:

rs753334568

TTN ; TTN-AS1

0.882

0.200

178546041

missense variant

G/A

snv

1.2E-05

1.4E-05

CUI:	C1863599
Disease:	Hereditary Myopathy with Early Respiratory Failure

Hereditary Myopathy with Early Respiratory Failure

0.700

1.000

2014

dbSNP:

rs574660186

TTN ; TTN-AS1

0.807

0.200

178579702

stop gained

G/A;C

snv

1.6E-05

3.5E-05

CUI:	C1863599
Disease:	Hereditary Myopathy with Early Respiratory Failure

Hereditary Myopathy with Early Respiratory Failure

0.700

1.000

2012

dbSNP:

rs1553543413

TTN ; TTN-AS1

0.807

0.200

178553783

frameshift variant

-/T

delins

CUI:	C1863599
Disease:	Hereditary Myopathy with Early Respiratory Failure

Hereditary Myopathy with Early Respiratory Failure

0.700

dbSNP:

rs1559187287

TTN ; TTN-AS1

1.000

0.160

178550221

frameshift variant

-/TT

delins

CUI:	C1863599
Disease:	Hereditary Myopathy with Early Respiratory Failure

Hereditary Myopathy with Early Respiratory Failure

0.700

dbSNP:

rs1560689563

TTN ; TTN-AS1

1.000

0.160

178722307

missense variant

A/G

snv

CUI:	C1863599
Disease:	Hereditary Myopathy with Early Respiratory Failure

Hereditary Myopathy with Early Respiratory Failure

0.700

dbSNP:

rs786205367

TTN ; TTN-AS1

1.000

0.160

178546050

missense variant

C/A;G

snv

CUI:	C1863599
Disease:	Hereditary Myopathy with Early Respiratory Failure

Hereditary Myopathy with Early Respiratory Failure

0.700

dbSNP:

rs794729340

TTN ; TTN-AS1

0.807

0.200

178570991

frameshift variant

TCTT/-

delins

CUI:	C1863599
Disease:	Hereditary Myopathy with Early Respiratory Failure

Hereditary Myopathy with Early Respiratory Failure

0.700

dbSNP:

rs869178171

TTN ; TTN-AS1

0.790

0.200

178563475

stop gained

C/A

snv

CUI:	C1863599
Disease:	Hereditary Myopathy with Early Respiratory Failure

Hereditary Myopathy with Early Respiratory Failure

0.700

dbSNP:

rs869312099

TTN ; TTN-AS1

0.807

0.200

178738361

splice acceptor variant

C/T

snv

4.1E-06

1.4E-05

CUI:	C1863599
Disease:	Hereditary Myopathy with Early Respiratory Failure

Hereditary Myopathy with Early Respiratory Failure

0.700

dbSNP:

rs869320739

TTN ; TTN-AS1

1.000

0.160

178546110

missense variant

G/C;T

snv

CUI:	C1863599
Disease:	Hereditary Myopathy with Early Respiratory Failure

Hereditary Myopathy with Early Respiratory Failure

0.700

dbSNP:

rs869320741

TTN ; TTN-AS1

0.925

0.200

178546051

missense variant

A/G

snv

CUI:	C1863599
Disease:	Hereditary Myopathy with Early Respiratory Failure

Hereditary Myopathy with Early Respiratory Failure

0.700

dbSNP:

rs869320742

TTN ; TTN-AS1

1.000

0.160

178546049

missense variant

C/G

snv

CUI:	C1863599
Disease:	Hereditary Myopathy with Early Respiratory Failure

Hereditary Myopathy with Early Respiratory Failure

0.700

dbSNP:

rs869320743

TTN ; TTN-AS1

1.000

0.160

178545878

missense variant

G/C

snv

CUI:	C1863599
Disease:	Hereditary Myopathy with Early Respiratory Failure

Hereditary Myopathy with Early Respiratory Failure

0.700