DisGeNET - a database of gene-disease associations

rs139515727, VARS2

N. diseases: 2

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.

Movement Disorders

CUI:	C0026650
Disease:	Movement Disorders

247

1.000

6

30915985

missense variant

C/T

snv

3.2E-05

1.0E-04

0.700

1.000

2011

2017

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20

CUI:	C4014660
Disease:	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20

6

1.000

6

30915985

missense variant

C/T

snv

3.2E-05

1.0E-04

0.700