rs63749993, MSH2

N. diseases: 8
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 0.882 0.200 2 47476424 missense variant T/G snv 0.730 0.833 6 1999 2012
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.882 0.200 2 47476424 missense variant T/G snv 0.700 1.000 8 1999 2016
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
875 0.882 0.200 2 47476424 missense variant T/G snv 0.700 1.000 6 1999 2012
Lynch Syndrome
CUI: C4552100
Disease: Lynch Syndrome
65 0.882 0.200 2 47476424 missense variant T/G snv 0.030 0.667 3 2006 2012
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.882 0.200 2 47476424 missense variant T/G snv 0.020 1.000 2 2011 2012
Adrenocortical carcinoma
CUI: C0206686
Disease: Adrenocortical carcinoma
46 0.882 0.200 2 47476424 missense variant T/G snv 0.010 1 2011 2011
Central Nervous System Neoplasms
CUI: C0085136
Disease: Central Nervous System Neoplasms
72 0.882 0.200 2 47476424 missense variant T/G snv 0.010 1.000 1 2012 2012
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.882 0.200 2 47476424 missense variant T/G snv 0.010 1.000 1 2006 2006