DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Mammary Neoplasms ×

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:

rs137853011

rs137853011

CHEK2

0.763

0.280

22

28695219

missense variant

G/A

snv

4.9E-04

2.6E-04

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

1.000

2005

2016

dbSNP:

rs1555913881

rs1555913881

CHEK2

22

28695841

frameshift variant

T/-

del

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

1.000

2004

2004

dbSNP:

rs555607708

rs555607708

CHEK2

0.667

0.360

22

28695869

frameshift variant

G/-

del

2.0E-03

1.8E-03

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

1.000

2017

2017

dbSNP:

rs587780170

rs587780170

CHEK2

0.851

0.120

22

28695786

missense variant

C/A;G;T

snv

2.8E-05; 8.0E-06

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

1.000

2007

2007

dbSNP:

rs786202676

rs786202676

CHEK2

22

28696956

missense variant

T/A;G

snv

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

1.000

2011

2011