Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10173538
rs10173538
Entrez Id: 29994;64844
Gene Symbol: BAZ2B;MARCHF7
BAZ2B;MARCHF7
CUI: C0005612
Disease:
Birth Weight
C 0.700 GeneticVariation GWASCAT Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. 31043758 2019
dbSNP: rs11898293
rs11898293
Entrez Id: 29994
Gene Symbol: BAZ2B
BAZ2B
CUI: C0020676
Disease:
Hypothyroidism
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs62173239
rs62173239
Entrez Id: 29994
Gene Symbol: BAZ2B
BAZ2B
CUI: C0023508
Disease:
White Blood Cell Count procedure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs10173538
rs10173538
Entrez Id: 29994;64844
Gene Symbol: BAZ2B;MARCHF7
BAZ2B;MARCHF7
CUI: C0200638
Disease:
Eosinophil count procedure
T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs10173538
rs10173538
Entrez Id: 29994;64844
Gene Symbol: BAZ2B;MARCHF7
BAZ2B;MARCHF7
CUI: C0200641
Disease:
Blood basophil count (lab test)
T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs10173538
rs10173538
Entrez Id: 29994;64844
Gene Symbol: BAZ2B;MARCHF7
BAZ2B;MARCHF7
CUI: C0200633
Disease:
Neutrophil count (procedure)
T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs10173538
rs10173538
Entrez Id: 29994;64844
Gene Symbol: BAZ2B;MARCHF7
BAZ2B;MARCHF7
CUI: C0857490
Disease:
Granulocyte count
T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs174230
rs174230
Entrez Id: 29994
Gene Symbol: BAZ2B
BAZ2B
CUI: C1720824
Disease:
Sudden Cardiac Arrest
0.700 GeneticVariation GWASDB Identification of a sudden cardiac death susceptibility locus at 2q24.2 through genome-wide association in European ancestry individuals. 21738491 2011
dbSNP: rs4665058
rs4665058
Entrez Id: 29994
Gene Symbol: BAZ2B
BAZ2B
CUI: C1720824
Disease:
Sudden Cardiac Arrest
A 0.700 GeneticVariation GWASDB Identification of a sudden cardiac death susceptibility locus at 2q24.2 through genome-wide association in European ancestry individuals. 21738491 2011
dbSNP: rs4665058
rs4665058
Entrez Id: 29994
Gene Symbol: BAZ2B
BAZ2B
CUI: C0085298
Disease:
Sudden Cardiac Death
A 0.700 GeneticVariation GWASCAT Identification of a sudden cardiac death susceptibility locus at 2q24.2 through genome-wide association in European ancestry individuals. 21738491 2011
dbSNP: rs1011770
rs1011770
Entrez Id: 29994
Gene Symbol: BAZ2B
BAZ2B
CUI: C0947622
Disease:
Cholecystolithiasis
0.700 GeneticVariation GWASDB A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease. 17632509 2007
dbSNP: rs1011770
rs1011770
Entrez Id: 29994
Gene Symbol: BAZ2B
BAZ2B
CUI: C0008350
Disease:
Cholelithiasis
0.700 GeneticVariation GWASDB A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease. 17632509 2007