DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs121908698 ×

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:

rs121908698

rs121908698

CHEK2

0.851

0.200

22

28725242

splice donor variant

C/A;T

snv

4.0E-06; 1.3E-04

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.700

1.000

2003

2017

dbSNP:

rs121908698

rs121908698

CHEK2

0.851

0.200

22

28725242

splice donor variant

C/A;T

snv

4.0E-06; 1.3E-04

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

1.000

2003

2016

dbSNP:

rs121908698

rs121908698

CHEK2

0.851

0.200

22

28725242

splice donor variant

C/A;T

snv

4.0E-06; 1.3E-04

CUI:	C3469522
Disease:	BREAST CANCER, SUSCEPTIBILITY TO

BREAST CANCER, SUSCEPTIBILITY TO

0.700

dbSNP:

rs121908698

rs121908698

CHEK2

0.851

0.200

22

28725242

splice donor variant

C/A;T

snv

4.0E-06; 1.3E-04

CUI:	C0029463
Disease:	Osteosarcoma

Osteosarcoma

0.700

dbSNP:

rs121908698

rs121908698

CHEK2

0.851

0.200

22

28725242

splice donor variant

C/A;T

snv

4.0E-06; 1.3E-04

CUI:	C0376358
Disease:	Malignant neoplasm of prostate

Malignant neoplasm of prostate

0.700

dbSNP:

rs121908698

rs121908698

CHEK2

0.851

0.200

22

28725242

splice donor variant

C/A;T

snv

4.0E-06; 1.3E-04

CUI:	C1836482
Disease:	Li-Fraumeni Syndrome 2

Li-Fraumeni Syndrome 2

0.700

dbSNP:

rs121908698

rs121908698

CHEK2

0.851

0.200

22

28725242

splice donor variant

C/A;T

snv

4.0E-06; 1.3E-04

CUI:	C1858433
Disease:	BREAST AND COLORECTAL CANCER, SUSCEPTIBILITY TO

BREAST AND COLORECTAL CANCER, SUSCEPTIBILITY TO

0.700