DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs121913287 ×

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:

rs121913287

rs121913287

PIK3CA

0.752

0.400

3

179199088

missense variant

G/A

snv

CUI:	C0009404
Disease:	Colorectal Neoplasms

Colorectal Neoplasms

0.700

1.000

2009

2016

dbSNP:

rs121913287

rs121913287

PIK3CA

0.752

0.400

3

179199088

missense variant

G/A

snv

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

1.000

2014

2016

dbSNP:

rs121913287

rs121913287

PIK3CA

0.752

0.400

3

179199088

missense variant

G/A

snv

CUI:	C0017636
Disease:	Glioblastoma

Glioblastoma

0.700

1.000

2016

2016

dbSNP:

rs121913287

rs121913287

PIK3CA

0.752

0.400

3

179199088

missense variant

G/A

snv

CUI:	C0279680
Disease:	Transitional cell carcinoma of bladder

Transitional cell carcinoma of bladder

0.700

1.000

2016

2016

dbSNP:

rs121913287

rs121913287

PIK3CA

0.752

0.400

3

179199088

missense variant

G/A

snv

CUI:	C0280630
Disease:	Uterine Carcinosarcoma

Uterine Carcinosarcoma

0.700

1.000

2016

2016

dbSNP:

rs121913287

rs121913287

PIK3CA

0.752

0.400

3

179199088

missense variant

G/A

snv

CUI:	C1168401
Disease:	Squamous cell carcinoma of the head and neck

Squamous cell carcinoma of the head and neck

0.700

1.000

2016

2016

dbSNP:

rs121913287

rs121913287

PIK3CA

0.752

0.400

3

179199088

missense variant

G/A

snv

CUI:	C0153574
Disease:	Malignant Uterine Corpus Neoplasm

Malignant Uterine Corpus Neoplasm

0.700

1.000

2016

2016

dbSNP:

rs121913287

rs121913287

PIK3CA

0.752

0.400

3

179199088

missense variant

G/A

snv

CUI:	C0007112
Disease:	Adenocarcinoma of prostate

Adenocarcinoma of prostate

0.700

1.000

2016

2016

dbSNP:

rs121913287

rs121913287

PIK3CA

0.752

0.400

3

179199088

missense variant

G/A

snv

CUI:	C0278701
Disease:	Gastric Adenocarcinoma

Gastric Adenocarcinoma

0.700

1.000

2016

2016

dbSNP:

rs121913287

rs121913287

PIK3CA

0.752

0.400

3

179199088

missense variant

G/A

snv

CUI:	C0677865
Disease:	Brain Stem Glioma

Brain Stem Glioma

0.700

1.000

2016

2016

dbSNP:

rs121913287

rs121913287

PIK3CA

0.752

0.400

3

179199088

missense variant

G/A

snv

CUI:	C0919267
Disease:	ovarian neoplasm

ovarian neoplasm

0.700