Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs767132637
rs767132637
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 GeneticVariation BEFREE Sanger sequencing of the primary MCC tumors detected one additional PIK3CA mutation (R19K) that had not been previously described in cancer. 22261808

2012

dbSNP: rs1226994105
rs1226994105
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 GeneticVariation BEFREE These findings open the possibility that blocking of PI3K/AKT will have therapeutic benefit in mutant p53-R273H expressing cancers. 26181206

2015