Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72541816
rs72541816
APC
0.720 GeneticVariation BEFREE However, special attention must be given to the missense mutations Asp1822Val and Ser2621Cys since their segregation with the FAP phenotype is questionable. 11668620

2001

dbSNP: rs72541816
rs72541816
APC
0.720 GeneticVariation BEFREE One previously described as a causative germline mutation (S2621C), associated with a 1-bp insertion (4684insA) on the opposite allele, did not segregate with the FAP phenotype in the family and was therefore considered as being non-pathogenic. 9341879

1997

dbSNP: rs72541816
rs72541816
APC
0.720 GeneticVariation UNIPROT