Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs62524728
rs62524728
Entrez Id: 116447
Gene Symbol: TOP1MT
TOP1MT
CUI: C0005890
Disease:
Body Height
0.700 GeneticVariation GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
dbSNP: rs11544484
rs11544484
Entrez Id: 116447
Gene Symbol: TOP1MT
TOP1MT
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE In contrast to the other five human topoisomerases, TOP1MT possesses two high frequency single nucleotide variants (SNVs), rs11544484 (V256I, Minor Allele Frequency = 0.27) and rs2293925 (R525W, MAF = 0.45), which tend to be mutually exclusive across different human ethnic groups and even more clearly in a cohort of 129 US patients with breast cancer and in the NCI-60 cancer cell lines. 28819183 2017
dbSNP: rs11544484
rs11544484
Entrez Id: 116447
Gene Symbol: TOP1MT
TOP1MT
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE We also found that the V256I variant was enriched to MAF = 0.64 in NCI-60 lung carcinoma cell lines, whereas the TOP1MT R525W was enriched to MAF = 0.65 in the NCI-60 melanoma cell lines. 28819183 2017
dbSNP: rs11544484
rs11544484
Entrez Id: 116447
Gene Symbol: TOP1MT
TOP1MT
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE In contrast to the other five human topoisomerases, TOP1MT possesses two high frequency single nucleotide variants (SNVs), rs11544484 (V256I, Minor Allele Frequency = 0.27) and rs2293925 (R525W, MAF = 0.45), which tend to be mutually exclusive across different human ethnic groups and even more clearly in a cohort of 129 US patients with breast cancer and in the NCI-60 cancer cell lines. 28819183 2017
dbSNP: rs2293925
rs2293925
Entrez Id: 116447
Gene Symbol: TOP1MT
TOP1MT
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE In contrast to the other five human topoisomerases, TOP1MT possesses two high frequency single nucleotide variants (SNVs), rs11544484 (V256I, Minor Allele Frequency = 0.27) and rs2293925 (R525W, MAF = 0.45), which tend to be mutually exclusive across different human ethnic groups and even more clearly in a cohort of 129 US patients with breast cancer and in the NCI-60 cancer cell lines. 28819183 2017
dbSNP: rs2293925
rs2293925
Entrez Id: 116447
Gene Symbol: TOP1MT
TOP1MT
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE In contrast to the other five human topoisomerases, TOP1MT possesses two high frequency single nucleotide variants (SNVs), rs11544484 (V256I, Minor Allele Frequency = 0.27) and rs2293925 (R525W, MAF = 0.45), which tend to be mutually exclusive across different human ethnic groups and even more clearly in a cohort of 129 US patients with breast cancer and in the NCI-60 cancer cell lines. 28819183 2017