DisGeNET - a database of gene-disease associations

rs142920240, CFTR

N. diseases: 5

Disease: Failure to Thrive ×

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.

Failure to Thrive

CUI:	C0015544
Disease:	Failure to Thrive

10

0.851

0.240

7

117540273

missense variant

T/A

snv

1.4E-04

7.0E-05

0.010

1.000

2012

2012