rs1057517558, APC

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Polyposis, Adenomatous Intestinal
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
332 0.882 0.120 5 112839549 frameshift variant C/- delins 0.700 1.000 4 1994 2015
Malignant neoplasm of large intestine
CUI: C0346629
Disease: Malignant neoplasm of large intestine
375 0.882 0.120 5 112839549 frameshift variant C/- delins 0.700 0
Medulloblastoma
CUI: C0025149
Disease: Medulloblastoma
115 0.882 0.120 5 112839549 frameshift variant C/- delins 0.010 1.000 1 2001 2001