DisGeNET - a database of gene-disease associations

Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1, C4551951

Variant: rs387906789 ×

Source: ALL

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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

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:

rs387906789

rs387906789

VCP

14

0.742

0.200

9

35065352

missense variant

G/A;C

snv

4.0E-06

0.700

1.000

2005

2018