Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909229
rs121909229
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
C 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121909229
rs121909229
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
T 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121909229
rs121909229
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.710 GeneticVariation BEFREE In this study, we predicted and analyzed the impact of three deleterious coding non-synonymous single nucleotide polymorphisms rs121909218 (G129E), rs121909229 (R130Q) and rs57374291 (D107N) in the PTEN gene on the phenotype of breast tumors using computational tools SIFT, Polyphen-2, PROVEAN, MUPro, POPMusic and the GETAREA server. 27221918

2016

dbSNP: rs121909229
rs121909229
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
A 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016