DisGeNET - a database of gene-disease associations

rs3184504, SH2B3;ATXN2

N. diseases: 92

Disease: Coronary heart disease ×

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.

Coronary heart disease

CUI:	C0010068
Disease:	Coronary heart disease

1178

0.572

0.600

12

111446804

missense variant

T/A;C;G

snv

0.67

0.820

1.000

2011

2018