Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1009110
rs1009110
Entrez Id: 9382
Gene Symbol: COG1
COG1
CUI: C0014772
Disease:
Red Blood Cell Count measurement
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1568296260
rs1568296260
Entrez Id: 9382
Gene Symbol: COG1
COG1
CUI: C2931011
Disease:
Congenital disorder of glycosylation, type 2G
A 0.700 CausalMutation CLINVAR