DisGeNET - a database of gene-disease associations

rs470117, CPT1B;CHKB-CPT1B

N. diseases: 2

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.

Corpuscular Hemoglobin Concentration Mean

CUI:	C4528257
Disease:	Corpuscular Hemoglobin Concentration Mean

4389

1.000

0.040

22

50571524

missense variant

C/T

snv

0.42

0.36

0.700

1.000

2012

2012

Metabolic Syndrome X

CUI:	C0524620
Disease:	Metabolic Syndrome X

591

1.000

0.040

22

50571524

missense variant

C/T

snv

0.42

0.36

0.010

1.000

2013

2013