rs1553350126, MSH2

N. diseases: 2
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.
Hereditary Nonpolyposis Colorectal Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
1331 0.925 0.200 2 47408456 frameshift variant -/AAGATCTTCTTCTGGTTCGTCA delins 0.700 0
Torre-Muir syndrome
CUI: C1321489
Disease: Torre-Muir syndrome
20 0.925 0.200 2 47408456 frameshift variant -/AAGATCTTCTTCTGGTTCGTCA delins 0.700 0