rs587781716, PMS2

N. diseases: 5
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 Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
875 1.000 0.160 7 6003718 frameshift variant C/-;CC delins 0.700 1.000 5 2010 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 1.000 0.160 7 6003718 frameshift variant C/-;CC delins 0.700 1.000 5 2010 2017
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
CUI: C1838333
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
50 1.000 0.160 7 6003718 frameshift variant C/-;CC delins 0.700 0
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 1.000 0.160 7 6003718 frameshift variant C/-;CC delins 0.010 1.000 1 2014 2014
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 1.000 0.160 7 6003718 frameshift variant C/-;CC delins 0.010 1.000 1 2014 2014