DisGeNET - a database of gene-disease associations

Source: ALL

Variant: rs1045485 ×

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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:

rs1045485

CASP8

0.637

0.480

201284866

missense variant

G/A;C;T

snv

4.0E-06; 9.0E-02

CUI:	C0346153
Disease:	Breast Cancer, Familial

Breast Cancer, Familial

0.010

1.000

2006

dbSNP:

rs1045485

CASP8

0.637

0.480

201284866

missense variant

G/A;C;T

snv

4.0E-06; 9.0E-02

CUI:	C0346647
Disease:	Malignant neoplasm of pancreas

Malignant neoplasm of pancreas

0.010

1.000

2009

dbSNP:

rs1045485

CASP8

0.637

0.480

201284866

missense variant

G/A;C;T

snv

4.0E-06; 9.0E-02

CUI:	C0260037
Disease:	Multiple tumors

Multiple tumors

0.010

1.000

2008

dbSNP:

rs1045485

CASP8

0.637

0.480

201284866

missense variant

G/A;C;T

snv

4.0E-06; 9.0E-02

CUI:	C0596263
Disease:	Carcinogenesis

Carcinogenesis

0.010

1.000

2006

dbSNP:

rs1045485

CASP8

0.637

0.480

201284866

missense variant

G/A;C;T

snv

4.0E-06; 9.0E-02

CUI:	C0235974
Disease:	Pancreatic carcinoma

Pancreatic carcinoma

0.010

1.000

2009

dbSNP:

rs1045485

CASP8

0.637

0.480

201284866

missense variant

G/A;C;T

snv

4.0E-06; 9.0E-02

CUI:	C0007102
Disease:	Malignant tumor of colon

Malignant tumor of colon

0.010

1.000

2006

dbSNP:

rs1045485

CASP8

0.637

0.480

201284866

missense variant

G/A;C;T

snv

4.0E-06; 9.0E-02

CUI:	C0007286
Disease:	Carpal Tunnel Syndrome

Carpal Tunnel Syndrome

0.010

1.000

2020

dbSNP:

rs1045485

CASP8

0.637

0.480

201284866

missense variant

G/A;C;T

snv

4.0E-06; 9.0E-02

CUI:	C4086165
Disease:	Childhood Neuroblastoma

Childhood Neuroblastoma

0.010

1.000

2014

dbSNP:

rs1045485

CASP8

0.637

0.480

201284866

missense variant

G/A;C;T

snv

4.0E-06; 9.0E-02

CUI:	C3887461
Disease:	Head and Neck Carcinoma

Head and Neck Carcinoma

0.010

< 0.001

2010

dbSNP:

rs1045485

CASP8

0.637

0.480

201284866

missense variant

G/A;C;T

snv

4.0E-06; 9.0E-02

CUI:	C3840085
Disease:	Disorder of Achilles tendon

Disorder of Achilles tendon

0.010

1.000

2012

dbSNP:

rs1045485

CASP8

0.637

0.480

201284866

missense variant

G/A;C;T

snv

4.0E-06; 9.0E-02

CUI:	C4722085
Disease:	Malignant neoplasm of colon and/or rectum

Malignant neoplasm of colon and/or rectum

0.010

1.000

2008

dbSNP:

rs1045485

CASP8

0.637

0.480

201284866

missense variant

G/A;C;T

snv

4.0E-06; 9.0E-02

CUI:	C1960398
Disease:	HER2-positive carcinoma of breast

HER2-positive carcinoma of breast

0.010

< 0.001

2019

dbSNP:

rs1045485

CASP8

0.637

0.480

201284866

missense variant

G/A;C;T

snv

4.0E-06; 9.0E-02

CUI:	C0699790
Disease:	Colon Carcinoma

Colon Carcinoma

0.010

1.000

2006

dbSNP:

rs1045485

CASP8

0.637

0.480

201284866

missense variant

G/A;C;T

snv

4.0E-06; 9.0E-02

CUI:	C0027819
Disease:	Neuroblastoma

Neuroblastoma

0.010

1.000

2014

dbSNP:

rs1045485

CASP8

0.637

0.480

201284866

missense variant

G/A;C;T

snv

4.0E-06; 9.0E-02

CUI:	C0004096
Disease:	Asthma

Asthma

0.010

1.000

2008

dbSNP:

rs1045485

CASP8

0.637

0.480

201284866

missense variant

G/A;C;T

snv

4.0E-06; 9.0E-02

CUI:	C0376358
Disease:	Malignant neoplasm of prostate

Malignant neoplasm of prostate

0.010

1.000

2014

dbSNP:

rs1045485

CASP8

0.637

0.480

201284866

missense variant

G/A;C;T

snv

4.0E-06; 9.0E-02

CUI:	C0009402
Disease:	Colorectal Carcinoma

Colorectal Carcinoma

0.010

1.000

2008

dbSNP:

rs1045485

CASP8

0.637

0.480

201284866

missense variant

G/A;C;T

snv

4.0E-06; 9.0E-02

CUI:	C0278996
Disease:	Malignant Head and Neck Neoplasm

Malignant Head and Neck Neoplasm

0.010

< 0.001

2010

dbSNP:

rs1045485

CASP8

0.637

0.480

201284866

missense variant

G/A;C;T

snv

4.0E-06; 9.0E-02

CUI:	C0700095
Disease:	Central neuroblastoma

Central neuroblastoma

0.010

1.000

2014

dbSNP:

rs1045485

CASP8

0.637

0.480

201284866

missense variant

G/A;C;T

snv

4.0E-06; 9.0E-02

CUI:	C0025286
Disease:	Meningioma

Meningioma

0.020

1.000

2009

2016

dbSNP:

rs1045485

CASP8

0.637

0.480

201284866

missense variant

G/A;C;T

snv

4.0E-06; 9.0E-02

CUI:	C0014518
Disease:	Toxic Epidermal Necrolysis

Toxic Epidermal Necrolysis

0.020

1.000

2012

2017

dbSNP:

rs1045485

CASP8

0.637

0.480

201284866

missense variant

G/A;C;T

snv

4.0E-06; 9.0E-02

CUI:	C0278877
Disease:	Adult Meningioma

Adult Meningioma

0.020

1.000

2009

2016

dbSNP:

rs1045485

CASP8

0.637

0.480

201284866

missense variant

G/A;C;T

snv

4.0E-06; 9.0E-02

CUI:	C1140680
Disease:	Malignant neoplasm of ovary

Malignant neoplasm of ovary

0.020

1.000

2010

dbSNP:

rs1045485

CASP8

0.637

0.480

201284866

missense variant

G/A;C;T

snv

4.0E-06; 9.0E-02

CUI:	C1762616
Disease:	Meningioma, benign, no ICD-O subtype

Meningioma, benign, no ICD-O subtype

0.020

1.000

2009

2016

dbSNP:

rs1045485

CASP8

0.637

0.480

201284866

missense variant

G/A;C;T

snv

4.0E-06; 9.0E-02

CUI:	C0919267
Disease:	ovarian neoplasm

ovarian neoplasm

0.020

1.000

2010