rs63751147, 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.
Hereditary Nonpolyposis Colorectal Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
1331 0.925 0.160 2 47416375 missense variant T/C;G snv 0.710 1.000 1 2020 2020
Lynch Syndrome
CUI: C4552100
Disease: Lynch Syndrome
65 0.925 0.160 2 47416375 missense variant T/C;G snv 0.010 1.000 1 2020 2020
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.925 0.160 2 47416375 missense variant T/C;G snv 0.010 1.000 1 2020 2020
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.925 0.160 2 47416375 missense variant T/C;G snv 0.010 1.000 1 2020 2020