DisGeNET - a database of gene-disease associations

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, C4015643

Variant: rs565224393 ×

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:

rs565224393

rs565224393

NARS2

3

0.882

0.200

11

78469304

stop gained

A/C;G;T

snv

4.0E-06; 4.0E-06

0.700

1.000

2015

2015