rs63750695, PMS2

N. diseases: 6
Source: CLINVAR ×
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.
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
CUI: C1838333
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
39 0.851 0.280 7 5978675 frameshift variant AAGTT/- delins 0.700 1.000 6 2008 2016
Hereditary Nonpolyposis Colorectal Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
1268 0.851 0.280 7 5978675 frameshift variant AAGTT/- delins 0.700 1.000 4 2004 2010
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6385 0.851 0.280 7 5978675 frameshift variant AAGTT/- delins 0.700 1.000 3 2004 2008
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
875 0.851 0.280 7 5978675 frameshift variant AAGTT/- delins 0.700 1.000 2 2005 2010
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
802 0.851 0.280 7 5978675 frameshift variant AAGTT/- delins 0.700 0
Malignant neoplasm of ovary
CUI: C1140680
Disease: Malignant neoplasm of ovary
20 0.851 0.280 7 5978675 frameshift variant AAGTT/- delins 0.700 0