DisGeNET - a database of gene-disease associations

Source: ALL

Variant: rs80357762 ×

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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:

rs80357762

rs80357762

BRCA1

1.000

17

43099827

frameshift variant

-/A

delins

8.0E-06

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

1.000

2002

2018

dbSNP:

rs80357762

rs80357762

BRCA1

1.000

17

43099827

frameshift variant

-/A

delins

8.0E-06

CUI:	C2676676
Disease:	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1

0.700