DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Adenomatous colonic polyposis ×

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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs1057518901

rs1057518901

APC

1.000

0.120

5

112840494

frameshift variant

C/-

delins

CUI:	C1868071
Disease:	Adenomatous colonic polyposis

Adenomatous colonic polyposis

0.700

dbSNP:

rs121913224

rs121913224

APC

0.742

0.200

5

112839515

frameshift variant

AAAGA/-

delins

CUI:	C1868071
Disease:	Adenomatous colonic polyposis

Adenomatous colonic polyposis

0.700

dbSNP:

rs1554083930

rs1554083930

APC

0.925

0.120

5

112837657

stop gained

C/A

snv

CUI:	C1868071
Disease:	Adenomatous colonic polyposis

Adenomatous colonic polyposis

0.700

dbSNP:

rs587779352

rs587779352

APC

0.882

0.120

5

112838774

frameshift variant

ACAAA/-

delins

CUI:	C1868071
Disease:	Adenomatous colonic polyposis

Adenomatous colonic polyposis

0.700

dbSNP:

rs587783031

rs587783031

APC

0.851

0.120

5

112840255

frameshift variant

A/-;AA

delins

CUI:	C1868071
Disease:	Adenomatous colonic polyposis

Adenomatous colonic polyposis

0.700