DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Colonic Neoplasms ×

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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:

rs1463038513

rs1463038513

APC

0.658

0.440

5

112839511

frameshift variant

TAAA/-

delins

CUI:	C0009375
Disease:	Colonic Neoplasms

Colonic Neoplasms

0.020

0.500

1999

2005

dbSNP:

rs1801155

rs1801155

APC

0.649

0.440

5

112839514

missense variant

T/A

snv

8.0E-06; 2.0E-03

1.2E-03

CUI:	C0009375
Disease:	Colonic Neoplasms

Colonic Neoplasms

0.020

0.500

1999

2005

dbSNP:

rs121913331

rs121913331

APC

0.851

0.120

5

112838934

stop gained

C/A;T

snv

8.0E-06

CUI:	C0009375
Disease:	Colonic Neoplasms

Colonic Neoplasms

0.010

1.000

2017

2017

dbSNP:

rs1288422703

rs1288422703

APC

5

112767386

missense variant

G/A

snv

4.0E-06

CUI:	C0009375
Disease:	Colonic Neoplasms

Colonic Neoplasms

0.010

1.000

2017

2017

dbSNP:

rs1441008398

rs1441008398

APC

5

112839334

missense variant

C/T

snv

4.0E-06

CUI:	C0009375
Disease:	Colonic Neoplasms

Colonic Neoplasms

0.010

1.000

2017

2017

dbSNP:

rs876660427

rs876660427

APC

5

112838608

missense variant

C/T

snv

CUI:	C0009375
Disease:	Colonic Neoplasms

Colonic Neoplasms

0.010

1.000

2017

2017