Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119476044
rs119476044
EGLN1
0.800 GeneticVariation UNIPROT Clinical utility gene card for: familial erythrocytosis. 22274579

2012
dbSNP: rs119476044
rs119476044
EGLN1
T 0.800 CausalMutation CLINVAR