DisGeNET - a database of gene-disease associations

MSH2, mutS homolog 2, 4436

N. diseases: 490; N. variants: 777

Disease: Hereditary Nonpolyposis Colorectal Neoplasms ×

Variant: rs63750614 ×

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

Variant

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Disease

Disease Class

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs63750614

1.000

0.160

47403223

frameshift variant

-/G

delins

7.0E-06

CUI:	C0009405
Disease:	Hereditary Nonpolyposis Colorectal Neoplasms

Hereditary Nonpolyposis Colorectal Neoplasms

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases

0.700