Source: BEFREE

Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
CUI: C0033774
Disease: Pruritus
Pruritus
0.030 GeneticVariation BEFREE As compared to those with less than 25% mutant allele, patients harboring greater than 75% JAK2(V617F) allele were at higher relative risk (RR) of presenting larger spleen (RR 4.7; P<0.001) or suffering from pruritus (RR 3.1; P<0.001). 17625606

2007

dbSNP: rs77375493
rs77375493
CUI: C0033774
Disease: Pruritus
Pruritus
0.030 GeneticVariation BEFREE However, compared with their heterozygote counterparts, JAK2(V617F) homozygote patients displayed a significantly higher hemoglobin level at the time of diagnosis (P=0.001), an increased incidence of pruritus (69% vs. 38%; P=0.04), a higher rate of fibrotic transformation (23% vs. 2%; P=0.009), and higher PRV-1 transcript levels in their blood granulocytes (P=0.07). 16369984

2006

dbSNP: rs77375493
rs77375493
CUI: C0033774
Disease: Pruritus
Pruritus
0.030 GeneticVariation BEFREE In AMM, the presence of JAK2(V617F) was associated with an older age at diagnosis and a history of thrombosis or pruritus. 16225651

2006