DisGeNET - a database of gene-disease associations

rs12916300, HERC2

N. diseases: 13

Source: ALL

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

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

Basal Cell Cancer

CUI:	C0751676
Disease:	Basal Cell Cancer

109

0.742

0.080

15

28165345

intron variant

C/T

snv

0.50

0.700

1.000

2016

2019

Basal cell carcinoma

CUI:	C0007117
Disease:	Basal cell carcinoma

109

0.742

0.080

15

28165345

intron variant

C/T

snv

0.50

0.700

1.000

2016

2019

Basal Cell Neoplasm

CUI:	C0206710
Disease:	Basal Cell Neoplasm

109

0.742

0.080

15

28165345

intron variant

C/T

snv

0.50

0.700

1.000

2016

2019

Adenocarcinoma of large intestine

CUI:	C1319315
Disease:	Adenocarcinoma of large intestine

432

0.742

0.080

15

28165345

intron variant

C/T

snv

0.50

0.700

1.000

2017

2017

COLORECTAL CANCER, SUSCEPTIBILITY TO, 1

CUI:	C1837315
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 1

374

0.742

0.080

15

28165345

intron variant

C/T

snv

0.50

0.700

1.000

2017

2017

COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

CUI:	C2675481
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

370

0.742

0.080

15

28165345

intron variant

C/T

snv

0.50

0.700

1.000

2017

2017

COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

CUI:	C3554460
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

373

0.742

0.080

15

28165345

intron variant

C/T

snv

0.50

0.700

1.000

2017

2017

COLORECTAL CANCER, SUSCEPTIBILITY TO, 3

CUI:	C2677123
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 3

368

0.742

0.080

15

28165345

intron variant

C/T

snv

0.50

0.700

1.000

2017

2017

Colorectal Carcinoma

CUI:	C0009402
Disease:	Colorectal Carcinoma

1962

0.742

0.080

15

28165345

intron variant

C/T

snv

0.50

0.700

1.000

2017

2017

Colorectal Neoplasms

CUI:	C0009404
Disease:	Colorectal Neoplasms

609

0.742

0.080

15

28165345

intron variant

C/T

snv

0.50

0.700

1.000

2017

2017

Malignant neoplasm of large intestine

CUI:	C0346629
Disease:	Malignant neoplasm of large intestine

375

0.742

0.080

15

28165345

intron variant

C/T

snv

0.50

0.700

1.000

2017

2017

Malignant tumor of colon

CUI:	C0007102
Disease:	Malignant tumor of colon

688

0.742

0.080

15

28165345

intron variant

C/T

snv

0.50

0.700

1.000

2017

2017

Squamous cell carcinoma

CUI:	C0007137
Disease:	Squamous cell carcinoma

257

0.742

0.080

15

28165345

intron variant

C/T

snv

0.50

0.700

1.000

2016

2016