DisGeNET - a database of gene-disease associations

rs104894681, FKRP

N. diseases: 10

Disease: CAMPOMELIC DYSPLASIA ×

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.

CAMPOMELIC DYSPLASIA

CUI:	C1861922
Disease:	CAMPOMELIC DYSPLASIA

20

0.776

0.200

19

46756793

missense variant

C/T

snv

9.0E-06

0.010

1.000

2018

2018