Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs117565673
rs117565673
Entrez Id: 863
Gene Symbol: CBFA2T3
CBFA2T3
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs475796
rs475796
Entrez Id: 863;102724632
Gene Symbol: CBFA2T3;LOC102724632
CBFA2T3;LOC102724632
CUI: C1837461
Disease:
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs475796
rs475796
Entrez Id: 863;102724632
Gene Symbol: CBFA2T3;LOC102724632
CBFA2T3;LOC102724632
CUI: C0410702
Disease:
Adolescent idiopathic scoliosis
0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs117565673
rs117565673
Entrez Id: 863
Gene Symbol: CBFA2T3
CBFA2T3
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin
C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs12102677
rs12102677
Entrez Id: 863;100129697
Gene Symbol: CBFA2T3;LOC100129697
CBFA2T3;LOC100129697
CUI: C0200665
Disease:
Platelet mean volume determination (procedure)
C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs7188793
rs7188793
Entrez Id: 863
Gene Symbol: CBFA2T3
CBFA2T3
CUI: C0042900
Disease:
Vitiligo
0.700 GeneticVariation GWASCAT Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants. 27723757 2016
dbSNP: rs553618592
rs553618592
Entrez Id: 863
Gene Symbol: CBFA2T3
CBFA2T3
CUI: C0009402
Disease:
Colorectal Carcinoma
0.700 GeneticVariation UNIPROT
dbSNP: rs745972870
rs745972870
Entrez Id: 863;101927793
Gene Symbol: CBFA2T3;LOC101927793
CBFA2T3;LOC101927793
CUI: C0009402
Disease:
Colorectal Carcinoma
0.700 GeneticVariation UNIPROT
dbSNP: rs774310781
rs774310781
Entrez Id: 863
Gene Symbol: CBFA2T3
CBFA2T3
CUI: C0009402
Disease:
Colorectal Carcinoma
0.700 GeneticVariation UNIPROT
dbSNP: rs13333659
rs13333659
Entrez Id: 863
Gene Symbol: CBFA2T3
CBFA2T3
CUI: C0338656
Disease:
Impaired cognition
0.010 GeneticVariation BEFREE Besides displaying abnormal CSF Aβ<sub>42</sub> levels, rs13333659-T carriers were more likely to exhibit a greater longitudinal cognitive decline (<i>p</i> = 0.029, <i>β</i> = 0.097) and hippocampal atrophy (<i>p</i> = 0.029, <i>β</i> = -0.160) in the non-demented elders, especially for the participants who were amyloid-positive at baseline. 31370031 2019
dbSNP: rs13333659
rs13333659
Entrez Id: 863
Gene Symbol: CBFA2T3
CBFA2T3
CUI: C0234985
Disease:
Mental deterioration
0.010 GeneticVariation BEFREE Besides displaying abnormal CSF Aβ<sub>42</sub> levels, rs13333659-T carriers were more likely to exhibit a greater longitudinal cognitive decline (<i>p</i> = 0.029, <i>β</i> = 0.097) and hippocampal atrophy (<i>p</i> = 0.029, <i>β</i> = -0.160) in the non-demented elders, especially for the participants who were amyloid-positive at baseline. 31370031 2019