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: 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: 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