DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 ×

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:

rs1057517565

BRCA2

0.925

0.200

32338925

frameshift variant

TTTC/-

del

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

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2

0.700

1.000

2016

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:

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:

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:

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:

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:

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:

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:

rs1060502395

BRCA2

0.925

0.200

32326146

frameshift variant

G/-

del

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

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2

0.700

dbSNP:

rs1060502400

BRCA2

0.925

0.200

32340575

frameshift variant

C/-

del

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

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2

0.700

dbSNP:

rs1060502403

BRCA2

0.925

0.200

32332670

frameshift variant

C/-

del

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

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2

0.700

dbSNP:

rs1060502414

BRCA2

0.925

0.200

32336945

stop gained

C/T

snv

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

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2

0.700

dbSNP:

rs1060502426

BRCA2

0.925

0.200

32338628

frameshift variant

G/-

del

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

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2

0.700

dbSNP:

rs1060502433

BRCA2

0.925

0.200

32357846

stop gained

G/A;T

snv

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

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2

0.700

dbSNP:

rs1060502437

BRCA2

0.925

0.200

32336827

frameshift variant

A/-

delins

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

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2

0.700

dbSNP:

rs1060502444

BRCA2

0.925

0.200

32340428

frameshift variant

TC/-

delins

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

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2

0.700

dbSNP:

rs1060502449

BRCA2

0.925

0.200

32337461

stop gained

G/A;T

snv

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

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2

0.700