DisGeNET - a database of gene-disease associations

rs121908675, LARGE1

N. diseases: 1

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.

Muscular Dystrophy, Congenital, Type 1D

CUI:	C1837229
Disease:	Muscular Dystrophy, Congenital, Type 1D

1

1.000

0.240

22

33304434

stop gained

C/A;T

snv

8.0E-06

0.800

1.000

2003

2010