DisGeNET - a database of gene-disease associations

rs121913059, CFH

N. diseases: 16

Disease: C3 glomerulopathy ×

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.

C3 glomerulopathy

CUI:	C4087273
Disease:	C3 glomerulopathy

1

0.716

0.280

1

196747245

missense variant

C/T

snv

1.4E-04

1.9E-04

0.010

1.000

2016

2016