DisGeNET - a database of gene-disease associations

rs1047891, CPS1

N. diseases: 34

Disease: Protein measurement ×

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

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.

Protein measurement

CUI:	C0202202
Disease:	Protein measurement

422

0.827

0.200

2

210675783

missense variant

C/A

snv

0.30

0.33

0.700

1.000

2016

2016