DisGeNET - a database of gene-disease associations

Source: ALL

Variant: rs1800440 ×

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:

rs1800440

CYP1B1

0.653

0.440

38070996

missense variant

T/C;G

snv

0.15; 4.0E-06

CUI:	C1274700
Disease:	Postmenopausal frontal fibrosing alopecia

Postmenopausal frontal fibrosing alopecia

0.700

1.000

2019

dbSNP:

rs1800440

CYP1B1

0.653

0.440

38070996

missense variant

T/C;G

snv

0.15; 4.0E-06

CUI:	C0035242
Disease:	Respiratory Tract Diseases

Respiratory Tract Diseases

0.700

1.000

2019

dbSNP:

rs1800440

CYP1B1

0.653

0.440

38070996

missense variant

T/C;G

snv

0.15; 4.0E-06

CUI:	C4255374
Disease:	Frontal fibrosing alopecia

Frontal fibrosing alopecia

0.700

1.000

2019

dbSNP:

rs1800440

CYP1B1

0.653

0.440

38070996

missense variant

T/C;G

snv

0.15; 4.0E-06

CUI:	C0206710
Disease:	Basal Cell Neoplasm

Basal Cell Neoplasm

0.700

1.000

2019

dbSNP:

rs1800440

CYP1B1

0.653

0.440

38070996

missense variant

T/C;G

snv

0.15; 4.0E-06

CUI:	C0751676
Disease:	Basal Cell Cancer

Basal Cell Cancer

0.700

1.000

2019

dbSNP:

rs1800440

CYP1B1

0.653

0.440

38070996

missense variant

T/C;G

snv

0.15; 4.0E-06

CUI:	C0007117
Disease:	Basal cell carcinoma

Basal cell carcinoma

0.700

1.000

2019

dbSNP:

rs1800440

CYP1B1

0.653

0.440

38070996

missense variant

T/C;G

snv

0.15; 4.0E-06

CUI:	C0476089
Disease:	Endometrial Carcinoma

Endometrial Carcinoma

0.050

1.000

2004

2015

dbSNP:

rs1800440

CYP1B1

0.653

0.440

38070996

missense variant

T/C;G

snv

0.15; 4.0E-06

CUI:	C0007103
Disease:	Malignant neoplasm of endometrium

Malignant neoplasm of endometrium

0.050

1.000

2004

2015

dbSNP:

rs1800440

CYP1B1

0.653

0.440

38070996

missense variant

T/C;G

snv

0.15; 4.0E-06

CUI:	C0678222
Disease:	Breast Carcinoma

Breast Carcinoma

0.040

0.750

2006

2015

dbSNP:

rs1800440

CYP1B1

0.653

0.440

38070996

missense variant

T/C;G

snv

0.15; 4.0E-06

CUI:	C0376358
Disease:	Malignant neoplasm of prostate

Malignant neoplasm of prostate

0.040

1.000

2008

2015

dbSNP:

rs1800440

CYP1B1

0.653

0.440

38070996

missense variant

T/C;G

snv

0.15; 4.0E-06

CUI:	C0600139
Disease:	Prostate carcinoma

Prostate carcinoma

0.040

1.000

2008

2015

dbSNP:

rs1800440

CYP1B1

0.653

0.440

38070996

missense variant

T/C;G

snv

0.15; 4.0E-06

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.040

0.750

2006

2015

dbSNP:

rs1800440

CYP1B1

0.653

0.440

38070996

missense variant

T/C;G

snv

0.15; 4.0E-06

CUI:	C0009402
Disease:	Colorectal Carcinoma

Colorectal Carcinoma

0.020

1.000

2012

2014

dbSNP:

rs1800440

CYP1B1

0.653

0.440

38070996

missense variant

T/C;G

snv

0.15; 4.0E-06

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

Malignant neoplasm of colon and/or rectum

0.020

1.000

2012

2014

dbSNP:

rs1800440

CYP1B1

0.653

0.440

38070996

missense variant

T/C;G

snv

0.15; 4.0E-06

CUI:	C0236075
Disease:	Menopausal symptom

Menopausal symptom

0.010

1.000

2018

dbSNP:

rs1800440

CYP1B1

0.653

0.440

38070996

missense variant

T/C;G

snv

0.15; 4.0E-06

CUI:	C0238198
Disease:	Gastrointestinal Stromal Tumors

Gastrointestinal Stromal Tumors

0.010

1.000

2013

dbSNP:

rs1800440

CYP1B1

0.653

0.440

38070996

missense variant

T/C;G

snv

0.15; 4.0E-06

CUI:	C0242379
Disease:	Malignant neoplasm of lung

Malignant neoplasm of lung

0.010

1.000

2012

dbSNP:

rs1800440

CYP1B1

0.653

0.440

38070996

missense variant

T/C;G

snv

0.15; 4.0E-06

CUI:	C0235974
Disease:	Pancreatic carcinoma

Pancreatic carcinoma

0.010

< 0.001

2010

dbSNP:

rs1800440

CYP1B1

0.653

0.440

38070996

missense variant

T/C;G

snv

0.15; 4.0E-06

CUI:	C0233397
Disease:	Psychological symptom

Psychological symptom

0.010

1.000

2018

dbSNP:

rs1800440

CYP1B1

0.653

0.440

38070996

missense variant

T/C;G

snv

0.15; 4.0E-06

CUI:	C0684249
Disease:	Carcinoma of lung

Carcinoma of lung

0.010

1.000

2012

dbSNP:

rs1800440

CYP1B1

0.653

0.440

38070996

missense variant

T/C;G

snv

0.15; 4.0E-06

CUI:	C1335302
Disease:	Pancreatic Ductal Adenocarcinoma

Pancreatic Ductal Adenocarcinoma

0.010

1.000

2008

dbSNP:

rs1800440

CYP1B1

0.653

0.440

38070996

missense variant

T/C;G

snv

0.15; 4.0E-06

CUI:	C0007131
Disease:	Non-Small Cell Lung Carcinoma

Non-Small Cell Lung Carcinoma

0.010

1.000

2010

dbSNP:

rs1800440

CYP1B1

0.653

0.440

38070996

missense variant

T/C;G

snv

0.15; 4.0E-06

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

Squamous cell carcinoma of the head and neck

0.010

< 0.001

2014

dbSNP:

rs1800440

CYP1B1

0.653

0.440

38070996

missense variant

T/C;G

snv

0.15; 4.0E-06

CUI:	C0339573
Disease:	Glaucoma, Primary Open Angle

Glaucoma, Primary Open Angle

0.010

1.000

2005

dbSNP:

rs1800440

CYP1B1

0.653

0.440

38070996

missense variant

T/C;G

snv

0.15; 4.0E-06

CUI:	C4282128
Disease:	PATENT DUCTUS ARTERIOSUS 1

PATENT DUCTUS ARTERIOSUS 1

0.010

1.000

2008