DisGeNET - a database of gene-disease associations

Pulmonary Hypertension, Primary, 1, C4552070

Variant: rs767882551 ×

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:

rs767882551

rs767882551

BMPR2

1

1.000

0.040

2

202530847

missense variant

G/A

snv

4.0E-06

0.700

1.000

2000

2017