DisGeNET - a database of gene-disease associations

rs113798404, CDKN2A

N. diseases: 2

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.

MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

CUI:	C1835044
Disease:	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

25

0.925

0.080

9

21970995

missense variant

C/G;T

snv

0.800

Biliary Tract Neoplasm

CUI:	C0005426
Disease:	Biliary Tract Neoplasm

3

0.925

0.080

9

21970995

missense variant

C/G;T

snv

0.700