rs63750047, MSH2

N. diseases: 4
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.
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.925 0.200 2 47475066 stop gained C/T snv 0.700 1.000 4 1994 1998
Hereditary Nonpolyposis Colorectal Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
1331 0.925 0.200 2 47475066 stop gained C/T snv 0.700 0
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
875 0.925 0.200 2 47475066 stop gained C/T snv 0.700 0
Torre-Muir syndrome
CUI: C1321489
Disease: Torre-Muir syndrome
20 0.925 0.200 2 47475066 stop gained C/T snv 0.700 0