DisGeNET - a database of gene-disease associations

CFAP69, cilia and flagella associated protein 69, 79846

N. diseases: 8; N. variants: 4

Source: ALL

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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Disease

Disease Class

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs1355278372

rs1355278372

1.000

7

90271640

stop gained

G/A

snv

7.0E-06

CUI:	C4693751
Disease:	SPERMATOGENIC FAILURE 24

SPERMATOGENIC FAILURE 24

0.700

dbSNP:

rs1554359569

rs1554359569

1.000

7

90271861

stop gained

C/T

snv

CUI:	C4693751
Disease:	SPERMATOGENIC FAILURE 24

SPERMATOGENIC FAILURE 24

0.700

dbSNP:

rs1554359685

rs1554359685

1.000

7

90271959

splice donor variant

G/A

snv

CUI:	C4693751
Disease:	SPERMATOGENIC FAILURE 24

SPERMATOGENIC FAILURE 24

0.700

dbSNP:

rs764048407

rs764048407

1.000

7

90277247

frameshift variant

-/AC

delins

7.0E-06

CUI:	C4693751
Disease:	SPERMATOGENIC FAILURE 24

SPERMATOGENIC FAILURE 24

0.700