DisGeNET - a database of gene-disease associations

Respiratory Distress Syndrome, Adult, C0035222

Variant: rs146709251 ×

Source: ALL

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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:

rs146709251

rs146709251

ABCA3

3

0.882

0.080

16

2279070

missense variant

G/A

snv

4.3E-03

3.0E-03

0.010

1.000

2016

2016