Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs149431976
rs149431976
EPO
CUI: C4693552
Disease: ERYTHROCYTOSIS, FAMILIAL, 5
ERYTHROCYTOSIS, FAMILIAL, 5 		0.700 GeneticVariation UNIPROT A Gain-of-Function Mutation in EPO in Familial Erythrocytosis. 29514032

2018
dbSNP: rs149431976
rs149431976
EPO
CUI: C4693552
Disease: ERYTHROCYTOSIS, FAMILIAL, 5
ERYTHROCYTOSIS, FAMILIAL, 5 		0.700 GeneticVariation UNIPROT Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations. 27651169

2016