DisGeNET - a database of gene-disease associations

Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus, C4551906

Variant: rs397515339 ×

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

Gene

N.diseases _v

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs397515339

rs397515339

DNAAF1

2

0.925

0.160

16

84170172

frameshift variant

-/C

delins

0.700

1.000

2009

2009