Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913547
rs121913547
LYZ
CUI: C0031256
Disease: Petechiae
Petechiae 		0.010 GeneticVariation BEFREE The phenotype, reported for the first time in this extended kindred, contrasts with that of an apparently unrelated family carrying the same mutation who presented with spontaneous hepatic haemorrhage and rupture, and with the manifestations in a family with the lysozyme Ile56Thr variant who presented with dermal petechiae before proceeding to fatal visceral amyloidosis. 10534505

1999
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
CUI: C0031256
Disease: Petechiae
Petechiae 		0.010 GeneticVariation BEFREE A 70-year-old woman with a five-year history of ET with JAK2 V617F mutation treated with hydroxycarbamide for five months presented with petechiae on her limbs. 31689837

2019