DisGeNET - a database of gene-disease associations

rs1021330566, EARS2

N. diseases: 1

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

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.

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12

CUI:	C3554079
Disease:	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12

14

1.000

16

23544679

missense variant

C/T

snv

7.0E-06

0.800