Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2275426
rs2275426
Entrez Id: 23139
Gene Symbol: MAST2
MAST2
CUI: C1305855
Disease:
Body mass index 		A 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs3795318
rs3795318
Entrez Id: 23139
Gene Symbol: MAST2
MAST2
CUI: C0023508
Disease:
White Blood Cell Count procedure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs77213763
rs77213763
Entrez Id: 23139
Gene Symbol: MAST2
MAST2
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs9429088
rs9429088
Entrez Id: 23139
Gene Symbol: MAST2
MAST2
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs12077974
rs12077974
Entrez Id: 23139
Gene Symbol: MAST2
MAST2
CUI: C0678222
Disease:
Breast Carcinoma 		A 0.700 GeneticVariation GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
dbSNP: rs7520050
rs7520050
Entrez Id: 23139
Gene Symbol: MAST2
MAST2
CUI: C0206161
Disease:
Reticulocyte count (procedure) 		C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs7520050
rs7520050
Entrez Id: 23139
Gene Symbol: MAST2
MAST2
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs796415138
rs796415138
Entrez Id: 23139
Gene Symbol: MAST2
MAST2
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: rs796415138
rs796415138
Entrez Id: 23139
Gene Symbol: MAST2
MAST2
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: rs796415138
rs796415138
Entrez Id: 23139
Gene Symbol: MAST2
MAST2
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: rs2275426
rs2275426
Entrez Id: 23139
Gene Symbol: MAST2
MAST2
CUI: C1305855
Disease:
Body mass index 		A 0.700 GeneticVariation GWASCAT The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study. 26426971 2015
dbSNP: rs12124649
rs12124649
Entrez Id: 23139
Gene Symbol: MAST2
MAST2
CUI: C0154084
Disease:
Stage 0 Breast Carcinoma 		0.010 GeneticVariation BEFREE ACVR2A-rs2382112 (OR<sub>hom</sub>  = 3.05, 95%CI = 1.72-5.44, P<sub>hom</sub>  = 1.47 × 10<sup>-4</sup> ), MAST2-rs12124649 (OR<sub>hom</sub>  = 1.73, 95% CI =1.18-2.54, P<sub>hom</sub>  = 5.24 × 10<sup>-3</sup> ), and INSR-rs10500204 (OR<sub>hom</sub>  = 1.96, 95% CI = 1.44-2.67, P<sub>hom</sub> =1.68 × 10<sup>-5</sup> ) were associated with increased risk of BCIS; however, only the latter association was significant after correcting for multiple testing. 29114882 2018
dbSNP: rs12124649
rs12124649
Entrez Id: 23139
Gene Symbol: MAST2
MAST2
CUI: C4520821
Disease:
Stage 0 Breast Cancer AJCC v6 and v7 		0.010 GeneticVariation BEFREE ACVR2A-rs2382112 (OR<sub>hom</sub>  = 3.05, 95%CI = 1.72-5.44, P<sub>hom</sub>  = 1.47 × 10<sup>-4</sup> ), MAST2-rs12124649 (OR<sub>hom</sub>  = 1.73, 95% CI =1.18-2.54, P<sub>hom</sub>  = 5.24 × 10<sup>-3</sup> ), and INSR-rs10500204 (OR<sub>hom</sub>  = 1.96, 95% CI = 1.44-2.67, P<sub>hom</sub> =1.68 × 10<sup>-5</sup> ) were associated with increased risk of BCIS; however, only the latter association was significant after correcting for multiple testing. 29114882 2018