DisGeNET - a database of gene-disease associations

MYASTHENIC SYNDROME, CONGENITAL, 17, C4225377

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

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:

rs1565785959

rs1565785959

LRP4

3

0.882

0.080

11

46879264

stop gained

C/A

snv

0.700

dbSNP:

rs786205153

rs786205153

LRP4

1

1.000

11

46875806

missense variant

C/T

snv

0.700