DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: CILIARY DYSKINESIA, PRIMARY, 20 ×

Results per page

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

Variant

Gene

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs147718607

rs147718607

CCDC114

0.925

0.160

19

48303953

missense variant

C/T

snv

2.4E-04

2.2E-04

CUI:	C3540844
Disease:	CILIARY DYSKINESIA, PRIMARY, 20

CILIARY DYSKINESIA, PRIMARY, 20

0.700

dbSNP:

rs201133219

rs201133219

CCDC114

1.000

19

48297995

splice region variant

C/T

snv

8.0E-05

7.0E-05

CUI:	C3540844
Disease:	CILIARY DYSKINESIA, PRIMARY, 20

CILIARY DYSKINESIA, PRIMARY, 20

0.700

dbSNP:

rs606231238

rs606231238

CCDC114

1.000

19

48311552

splice donor variant

C/T

snv

1.9E-05; 6.4E-06

2.8E-05

CUI:	C3540844
Disease:	CILIARY DYSKINESIA, PRIMARY, 20

CILIARY DYSKINESIA, PRIMARY, 20

0.700

dbSNP:

rs606231239

rs606231239

CCDC114

1.000

19

48306325

splice acceptor variant

T/C

snv

1.9E-05

2.8E-05

CUI:	C3540844
Disease:	CILIARY DYSKINESIA, PRIMARY, 20

CILIARY DYSKINESIA, PRIMARY, 20

0.700

dbSNP:

rs606231240

rs606231240

CCDC114

1.000

19

48303034

frameshift variant

A/-

del

2.0E-05

7.0E-06

CUI:	C3540844
Disease:	CILIARY DYSKINESIA, PRIMARY, 20

CILIARY DYSKINESIA, PRIMARY, 20

0.700