DisGeNET - a database of gene-disease associations

Congenital hypoplasia of lung, C0265783

Variant: rs138119149 ×

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:

rs138119149

rs138119149

AARS2 ; TMEM151B

11

0.807

0.280

6

44304512

missense variant

G/A

snv

2.1E-04

2.4E-04

0.700