DisGeNET - a database of gene-disease associations

rs10516487, BANK1

N. diseases: 11

Disease: Lupus Erythematosus, Systemic ×

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.

Lupus Erythematosus, Systemic

CUI:	C0024141
Disease:	Lupus Erythematosus, Systemic

1172

0.752

0.360

4

101829919

missense variant

G/A;T

snv

0.26; 8.0E-06

0.880

1.000

2008

2019