DisGeNET - a database of gene-disease associations

Source: BEFREE

Disease: Polycythemia Vera ×

Variant: rs773475680 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs773475680

rs773475680

ABL1

CUI:	C0032463
Disease:	Polycythemia Vera

Polycythemia Vera

0.010

GeneticVariation

BEFREE

Among these mutations, only one case of JAK2 V617F/C618R has been reported in a 67-year-old patient with PV.

2009