DisGeNET - a database of gene-disease associations

rs1060503336, APC

N. diseases: 2

Source: CURATED ×

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.

Neoplastic Syndromes, Hereditary

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

6385

1.000

0.120

5

112837690

stop gained

G/A

snv

0.700

1.000

1995

1999

Polyposis, Adenomatous Intestinal

CUI:	C2713442
Disease:	Polyposis, Adenomatous Intestinal

332

1.000

0.120

5

112837690

stop gained

G/A

snv

0.700