DisGeNET - a database of gene-disease associations

3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency, C2751532

Variant: rs137852638 ×

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:

rs137852638

rs137852638

HMGCS2

1

1.000

0.080

1

119759915

missense variant

C/T

snv

2.2E-04

2.6E-04

0.800

1.000

2001

2015