DisGeNET - a database of gene-disease associations

rs869312122, TTN;TTN-AS1

N. diseases: 2

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

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

Cardiomyopathy, Dilated

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

509

1.000

0.120

2

178535516

frameshift variant

-/A

ins

0.700

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

CUI:	C1837342
Disease:	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J

230

1.000

0.120

2

178535516

frameshift variant

-/A

ins

0.700