Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs76771178
rs76771178
Entrez Id: 9139
Gene Symbol: CBFA2T2
CBFA2T2
CUI: C0427460
Disease:
Red cell distribution width determination
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs76771178
rs76771178
Entrez Id: 9139
Gene Symbol: CBFA2T2
CBFA2T2
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs6059349
rs6059349
Entrez Id: 9139
Gene Symbol: CBFA2T2
CBFA2T2
CUI: C1168438
Disease:
Protein C antigen measurement
0.700 GeneticVariation GWASDB Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study. 20802025 2010
dbSNP: rs6059349
rs6059349
Entrez Id: 9139
Gene Symbol: CBFA2T2
CBFA2T2
CUI: C0919677
Disease:
Protein C measurement
0.700 GeneticVariation GWASDB Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study. 20802025 2010
dbSNP: rs752411521
rs752411521
Entrez Id: 9139
Gene Symbol: CBFA2T2
CBFA2T2
CUI: C0000889
Disease:
Acanthosis Nigricans
0.010 GeneticVariation BEFREE We examined the properties of a mutant insulin receptor (IR) with an Arg(252) to Cys (IR(R252C)) substitution in the alpha-subunit originally identified in a patient with extreme insulin resistance and acanthosis nigricans. 12107746 2002