DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Colorectal Neoplasms ×

Gene: PIK3CA ×

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:

rs1057519942

rs1057519942

PIK3CA

0.724

0.320

3

179203760

missense variant

G/A

snv

CUI:	C0009404
Disease:	Colorectal Neoplasms

Colorectal Neoplasms

0.700

1.000

2016

2016

dbSNP:

rs121913275

rs121913275

PIK3CA

0.672

0.320

3

179218305

missense variant

G/A;C;T

snv

4.0E-06

CUI:	C0009404
Disease:	Colorectal Neoplasms

Colorectal Neoplasms

0.700

1.000

2016

2016

dbSNP:

rs121913277

rs121913277

PIK3CA

0.925

0.280

3

179234302

missense variant

G/A;C

snv

CUI:	C0009404
Disease:	Colorectal Neoplasms

Colorectal Neoplasms

0.700

1.000

2014

2014

dbSNP:

rs121913281

rs121913281

PIK3CA

0.623

0.520

3

179234296

missense variant

C/T

snv

CUI:	C0009404
Disease:	Colorectal Neoplasms

Colorectal Neoplasms

0.700

1.000

2016

2016

dbSNP:

rs749415085

rs749415085

PIK3CA

0.807

0.160

3

179198937

missense variant

C/A;G;T

snv

CUI:	C0009404
Disease:	Colorectal Neoplasms

Colorectal Neoplasms

0.700

1.000

2016

2016

dbSNP:

rs772110575

rs772110575

PIK3CA

0.807

0.160

3

179198938

missense variant

G/A;T

snv

4.0E-06

CUI:	C0009404
Disease:	Colorectal Neoplasms

Colorectal Neoplasms

0.700

1.000

2016

2016

dbSNP:

rs867262025

rs867262025

PIK3CA

0.790

0.360

3

179221146

missense variant

G/A

snv

CUI:	C0009404
Disease:	Colorectal Neoplasms

Colorectal Neoplasms

0.700

1.000

2016

2016