DisGeNET - a database of gene-disease associations

Source: CLINVAR

Gene: BRCA2 ×

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:

rs1057517566

BRCA2

0.925

0.200

32337431

frameshift variant

AA/-

del

CUI:	C2675520
Disease:	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2

0.700

dbSNP:

rs1057517566

BRCA2

0.925

0.200

32337431

frameshift variant

AA/-

del

CUI:	C0677776
Disease:	Hereditary Breast and Ovarian Cancer Syndrome

Hereditary Breast and Ovarian Cancer Syndrome

0.700

dbSNP:

rs1057517572

BRCA2

0.925

0.200

32319315

frameshift variant

-/T

delins

CUI:	C2675520
Disease:	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2

0.700

dbSNP:

rs1057517572

BRCA2

0.925

0.200

32319315

frameshift variant

-/T

delins

CUI:	C0677776
Disease:	Hereditary Breast and Ovarian Cancer Syndrome

Hereditary Breast and Ovarian Cancer Syndrome

0.700

dbSNP:

rs1057517595

BRCA2

1.000

32339841

frameshift variant

GT/-

delins

CUI:	C2675520
Disease:	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2

0.700

dbSNP:

rs1057517636

BRCA2

1.000

32338829

stop gained

A/T

snv

CUI:	C2675520
Disease:	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2

0.700

dbSNP:

rs1057517865

BRCA2

1.000

32371025

stop gained

A/T

snv

CUI:	C2675520
Disease:	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2

0.700

dbSNP:

rs1057518635

BRCA2

1.000

32340367

frameshift variant

ATAG/-

delins

CUI:	C2675520
Disease:	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2

0.700

dbSNP:

rs1057518635

BRCA2

1.000

32340367

frameshift variant

ATAG/-

delins

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

dbSNP:

rs1057518637

BRCA2

1.000

32336621

stop gained

C/G;T

snv

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

dbSNP:

rs1057518637

BRCA2

1.000

32336621

stop gained

C/G;T

snv

CUI:	C2675520
Disease:	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2

0.700

dbSNP:

rs1057518638

BRCA2

1.000

32339317

stop gained

T/A

snv

CUI:	C2675520
Disease:	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2

0.700

dbSNP:

rs1057518638

BRCA2

1.000

32339317

stop gained

T/A

snv

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

dbSNP:

rs1057519559

BRCA2

0.925

0.200

32339514

frameshift variant

AACA/-

delins

CUI:	C0677776
Disease:	Hereditary Breast and Ovarian Cancer Syndrome

Hereditary Breast and Ovarian Cancer Syndrome

0.700

dbSNP:

rs1057519559

BRCA2

0.925

0.200

32339514

frameshift variant

AACA/-

delins

CUI:	C2675520
Disease:	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2

0.700

dbSNP:

rs1057520636

BRCA2

1.000

32338581

stop gained

T/A

snv

CUI:	C2675520
Disease:	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2

0.700

dbSNP:

rs1060499566

BRCA2

1.000

32316421

splice acceptor variant

G/A

snv

CUI:	C2675520
Disease:	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2

0.700

dbSNP:

rs1060499833

BRCA2

1.000

32339338

stop gained

T/G

snv

CUI:	C2675520
Disease:	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2

0.700

dbSNP:

rs1060502376

BRCA2

1.000

0.200

32319076

splice acceptor variant

G/A;C;T

snv

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

dbSNP:

rs1060502385

BRCA2

0.925

0.200

32332376

frameshift variant

GTA/TT

delins

CUI:	C2675520
Disease:	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2

0.700

dbSNP:

rs1060502385

BRCA2

0.925

0.200

32332376

frameshift variant

GTA/TT

delins

CUI:	C0677776
Disease:	Hereditary Breast and Ovarian Cancer Syndrome

Hereditary Breast and Ovarian Cancer Syndrome

0.700

dbSNP:

rs1060502391

BRCA2

0.925

0.200

32337329

frameshift variant

A/-

delins

CUI:	C0677776
Disease:	Hereditary Breast and Ovarian Cancer Syndrome

Hereditary Breast and Ovarian Cancer Syndrome

0.700

dbSNP:

rs1060502391

BRCA2

0.925

0.200

32337329

frameshift variant

A/-

delins

CUI:	C2675520
Disease:	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2

0.700

dbSNP:

rs1060502392

BRCA2

0.925

0.200

32340925

frameshift variant

A/-

delins

CUI:	C2675520
Disease:	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2

0.700

dbSNP:

rs1060502392

BRCA2

0.925

0.200

32340925

frameshift variant

A/-

delins

CUI:	C0677776
Disease:	Hereditary Breast and Ovarian Cancer Syndrome

Hereditary Breast and Ovarian Cancer Syndrome

0.700