Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs6001930
rs6001930
Entrez Id: 57591
Gene Symbol: MRTFA
MRTFA
CUI: C0678222
Disease:
Breast Carcinoma 		C 0.710 GeneticVariation GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
dbSNP: rs6001930
rs6001930
Entrez Id: 57591
Gene Symbol: MRTFA
MRTFA
CUI: C0678222
Disease:
Breast Carcinoma 		0.710 GeneticVariation BEFREE Using the chi-squared (χ<sup>2</sup>) test and genetic model analysis, we found an association with BC for four SNPs (rs616488 (1p36.22/PEX14), rs6678914 (1q32.1/LGR6), rs17530068 (6q14/unknown) and rs6001930 (22q13.1/MKL1)) at a 5% level. 27604554 2016
dbSNP: rs6001930
rs6001930
Entrez Id: 57591
Gene Symbol: MRTFA
MRTFA
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.710 GeneticVariation BEFREE Using the chi-squared (χ<sup>2</sup>) test and genetic model analysis, we found an association with BC for four SNPs (rs616488 (1p36.22/PEX14), rs6678914 (1q32.1/LGR6), rs17530068 (6q14/unknown) and rs6001930 (22q13.1/MKL1)) at a 5% level. 27604554 2016
dbSNP: rs6001930
rs6001930
Entrez Id: 57591
Gene Symbol: MRTFA
MRTFA
CUI: C0678222
Disease:
Breast Carcinoma 		C 0.710 GeneticVariation GWASCAT Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. 25751625 2015
dbSNP: rs6001930
rs6001930
Entrez Id: 57591
Gene Symbol: MRTFA
MRTFA
CUI: C0678222
Disease:
Breast Carcinoma 		C 0.710 GeneticVariation GWASCAT Large-scale genotyping identifies 41 new loci associated with breast cancer risk. 23535729 2013
dbSNP: rs6001930
rs6001930
Entrez Id: 57591
Gene Symbol: MRTFA
MRTFA
CUI: C0006142
Disease:
Malignant neoplasm of breast 		C 0.710 GeneticVariation GWASDB Large-scale genotyping identifies 41 new loci associated with breast cancer risk. 23535729 2013
dbSNP: rs112785404
rs112785404
Entrez Id: 57591
Gene Symbol: MRTFA
MRTFA
CUI: C0017654
Disease:
Glomerular Filtration Rate 		T 0.700 GeneticVariation GWASCAT Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program. 31451708 2019
dbSNP: rs112880707
rs112880707
Entrez Id: 57591
Gene Symbol: MRTFA
MRTFA
CUI: C0017654
Disease:
Glomerular Filtration Rate 		T 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
dbSNP: rs133047
rs133047
Entrez Id: 57591
Gene Symbol: MRTFA
MRTFA
CUI: C0021704
Disease:
Intelligence 		0.700 GeneticVariation GWASCAT Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways. 31374203 2019
dbSNP: rs133047
rs133047
Entrez Id: 57591
Gene Symbol: MRTFA
MRTFA
CUI: C0036341
Disease:
Schizophrenia 		0.700 GeneticVariation GWASCAT Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways. 31374203 2019
dbSNP: rs17001943
rs17001943
Entrez Id: 57591
Gene Symbol: MRTFA
MRTFA
CUI: C0017654
Disease:
Glomerular Filtration Rate 		A 0.700 GeneticVariation GWASCAT Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies. 30604766 2019
dbSNP: rs17001977
rs17001977
Entrez Id: 57591
Gene Symbol: MRTFA
MRTFA
CUI: C0017654
Disease:
Glomerular Filtration Rate 		0.700 GeneticVariation GWASCAT Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies. 30604766 2019
dbSNP: rs199796575
rs199796575
Entrez Id: 1343;57591
Gene Symbol: COX6B1P3;MRTFA
COX6B1P3;MRTFA
CUI: C0017654
Disease:
Glomerular Filtration Rate 		A 0.700 GeneticVariation GWASCAT Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program. 31451708 2019
dbSNP: rs73167082
rs73167082
Entrez Id: 57591
Gene Symbol: MRTFA
MRTFA
CUI: C0017654
Disease:
Glomerular Filtration Rate 		C 0.700 GeneticVariation GWASCAT Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis. 31015462 2019
dbSNP: rs10483205
rs10483205
Entrez Id: 57591
Gene Symbol: MRTFA
MRTFA
CUI: C0425782
Disease:
Breast size 		T 0.700 GeneticVariation GWASCAT Japanese GWAS identifies variants for bust-size, dysmenorrhea, and menstrual fever that are eQTLs for relevant protein-coding or long non-coding RNAs. 29855537 2018
dbSNP: rs17001974
rs17001974
Entrez Id: 57591
Gene Symbol: MRTFA
MRTFA
CUI: C0201976
Disease:
Creatinine measurement, serum (procedure) 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs17002036
rs17002036
Entrez Id: 57591
Gene Symbol: MRTFA
MRTFA
CUI: C0425782
Disease:
Breast size 		A 0.700 GeneticVariation GWASCAT Japanese GWAS identifies variants for bust-size, dysmenorrhea, and menstrual fever that are eQTLs for relevant protein-coding or long non-coding RNAs. 29855537 2018
dbSNP: rs6001939
rs6001939
Entrez Id: 57591
Gene Symbol: MRTFA
MRTFA
CUI: C0017654
Disease:
Glomerular Filtration Rate 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs6001960
rs6001960
Entrez Id: 57591
Gene Symbol: MRTFA
MRTFA
CUI: C1956346
Disease:
Coronary Artery Disease 		A 0.700 GeneticVariation GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778 2018
dbSNP: rs729982
rs729982
Entrez Id: 57591
Gene Symbol: MRTFA
MRTFA
CUI: C2242776
Disease:
Plexiform leiomyoma 		C 0.700 GeneticVariation GWASCAT Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits. 30194396 2018
dbSNP: rs729982
rs729982
Entrez Id: 57591
Gene Symbol: MRTFA
MRTFA
CUI: C0042133
Disease:
Uterine Fibroids 		C 0.700 GeneticVariation GWASCAT Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits. 30194396 2018
dbSNP: rs8139521
rs8139521
Entrez Id: 57591
Gene Symbol: MRTFA
MRTFA
CUI: C0596887
Disease:
mathematical ability 		A 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs878756
rs878756
Entrez Id: 57591
Gene Symbol: MRTFA
MRTFA
CUI: C0596887
Disease:
mathematical ability 		T 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs9607721
rs9607721
Entrez Id: 57591
Gene Symbol: MRTFA
MRTFA
CUI: C0201973
Disease:
Creatine kinase measurement 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs133047
rs133047
Entrez Id: 57591
Gene Symbol: MRTFA
MRTFA
CUI: C0036341
Disease:
Schizophrenia 		T 0.700 GeneticVariation GWASCAT Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. 28540026 2017