DisGeNET - a database of gene-disease associations

Joubert syndrome with Jeune asphyxiating thoracic dystrophy, C4518774

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:

rs431905521

rs431905521

IFT140 ; LOC105371046

3

0.882

0.320

16

1587961

missense variant

C/G;T

snv

4.0E-06; 4.0E-06

0.700

dbSNP:

rs764770536

rs764770536

IFT140

2

0.925

0.320

16

1524551

splice donor variant

C/A

snv

4.1E-06

0.700