DisGeNET - a database of gene-disease associations

rs72552713, ABCG2

N. diseases: 2

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.

URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1

CUI:	C1841837
Disease:	URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1

2

0.925

0.040

4

88131805

stop gained

G/A

snv

4.0E-04

1.2E-04

0.700

Hyperuricemia

CUI:	C0740394
Disease:	Hyperuricemia

76

0.925

0.040

4

88131805

stop gained

G/A

snv

4.0E-04

1.2E-04

0.010

1.000

2018

2018