Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1800056
rs1800056
ATM
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.020 GeneticVariation BEFREE Two amino acid substitutions p.S707P and p.F858L, previously reported to be associated with breast cancer, were present in our study in cases and controls, lacking of association with breast cancer. 17351744

2008

dbSNP: rs1800056
rs1800056
ATM
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.020 GeneticVariation BEFREE Two amino acid substitutions p.S707P and p.F858L, previously reported to be associated with breast cancer, were present in our study in cases and controls, lacking of association with breast cancer. 17351744

2008

dbSNP: rs1800056
rs1800056
ATM
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.020 GeneticVariation BEFREE Within the BC lines studied, the group composed of the six carrying the linked 2572T>C (858F>L) and 3161C>G (1054P>R) variants had a higher level of MN after IR exposure compared to that observed in the remaining four BC or in the normal cell lines. 15101044

2004

dbSNP: rs1800056
rs1800056
ATM
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.020 GeneticVariation BEFREE Within the BC lines studied, the group composed of the six carrying the linked 2572T>C (858F>L) and 3161C>G (1054P>R) variants had a higher level of MN after IR exposure compared to that observed in the remaining four BC or in the normal cell lines. 15101044

2004

dbSNP: rs1800056
rs1800056
ATM
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 GeneticVariation BEFREE Further SNPs associated with CRC risk included several previously reported to be associated with cancer risk including ATM F858L [OR=1.48; 95% confidence interval (CI): 1.06-2.07] and P1054R (OR=1.42; 95% CI: 1.14-1.77) and MTHFR A222V (OR=0.82; 95% CI: 0.69-0.97). 17000706

2006

dbSNP: rs1800056
rs1800056
ATM
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 GeneticVariation BEFREE Further SNPs associated with CRC risk included several previously reported to be associated with cancer risk including ATM F858L [OR=1.48; 95% confidence interval (CI): 1.06-2.07] and P1054R (OR=1.42; 95% CI: 1.14-1.77) and MTHFR A222V (OR=0.82; 95% CI: 0.69-0.97). 17000706

2006

dbSNP: rs1800056
rs1800056
ATM
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 GeneticVariation BEFREE Further SNPs associated with CRC risk included several previously reported to be associated with cancer risk including ATM F858L [OR=1.48; 95% confidence interval (CI): 1.06-2.07] and P1054R (OR=1.42; 95% CI: 1.14-1.77) and MTHFR A222V (OR=0.82; 95% CI: 0.69-0.97). 17000706

2006

dbSNP: rs1800056
rs1800056
ATM
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 GeneticVariation BEFREE In five of them, the well-known polymorphisms D1853N and F858L were identified and in all 22 tumors, the wild-type allele was preserved. 14553952

2003