DisGeNET - a database of gene-disease associations

rs727504412, JAG1

N. diseases: 3

Disease: Congenital Heart Defects ×

Source: ALL

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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

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

Congenital Heart Defects

CUI:	C0018798
Disease:	Congenital Heart Defects

58

0.925

0.120

20

10645245

frameshift variant

ACTG/-

delins

0.700

1.000

1997

2005