DisGeNET - a database of gene-disease associations

TTN-AS1, TTN antisense RNA 1, 100506866

N. diseases: 78; N. variants: 567

Disease: Proximal lower limb amyotrophy ×

Source: CLINVAR ×

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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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Disease

Disease Class

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs757082154

rs757082154

1.000

0.120

2

178527491

stop gained

G/A

snv

1.2E-05

CUI:	C1836767
Disease:	Proximal lower limb amyotrophy

Proximal lower limb amyotrophy

0.700

dbSNP:

rs760768093

rs760768093

0.882

0.160

2

178533255

frameshift variant

C/-

delins

2.4E-05

1.4E-05

CUI:	C1836767
Disease:	Proximal lower limb amyotrophy

Proximal lower limb amyotrophy

0.700