rs1114167806, MSH2

N. diseases: 7
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 0.827 0.200 2 47463096 stop gained ATGA/-;ATGAATGA delins 0.700 1.000 6 1999 2017
Hereditary Nonpolyposis Colorectal Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
1331 0.827 0.200 2 47463096 stop gained ATGA/-;ATGAATGA delins 0.700 1.000 3 1999 2004
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.827 0.200 2 47463096 stop gained ATGA/-;ATGAATGA delins 0.700 0
Colorectal cancer, hereditary nonpolyposis, type 1
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
179 0.827 0.200 2 47463096 stop gained ATGA/-;ATGAATGA delins 0.700 0
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.827 0.200 2 47463096 stop gained ATGA/-;ATGAATGA delins 0.700 0
Malignant tumor of colon
CUI: C0007102
Disease: Malignant tumor of colon
688 0.827 0.200 2 47463096 stop gained ATGA/-;ATGAATGA delins 0.700 0
Skin Neoplasms
CUI: C0037286
Disease: Skin Neoplasms
9 0.827 0.200 2 47463096 stop gained ATGA/-;ATGAATGA delins 0.700 0