DisGeNET - a database of gene-disease associations

rs201623252, ASS1

N. diseases: 2

Disease: Citrullinemia Type 1 ×

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.

Citrullinemia Type 1

CUI:	C4721769
Disease:	Citrullinemia Type 1

85

0.925

0.120

9

130464127

missense variant

G/A;T

snv

4.0E-06

1.4E-05

0.700

1.000

1990

2017