rs587778617, PMS2

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 0.807 0.240 7 5987504 stop gained G/A snv 7.0E-06 0.710 1.000 2 2016 2019
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
875 0.807 0.240 7 5987504 stop gained G/A snv 7.0E-06 0.700 1.000 2 2013 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.807 0.240 7 5987504 stop gained G/A snv 7.0E-06 0.700 1.000 1 2016 2016
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
CUI: C1838333
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
50 0.807 0.240 7 5987504 stop gained G/A snv 7.0E-06 0.700 0
Carcinoma, Ovarian Epithelial
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
327 0.807 0.240 7 5987504 stop gained G/A snv 7.0E-06 0.010 1.000 1 2019 2019
Lynch Syndrome
CUI: C4552100
Disease: Lynch Syndrome
65 0.807 0.240 7 5987504 stop gained G/A snv 7.0E-06 0.010 1.000 1 2019 2019
Malignant neoplasm of ovary
CUI: C1140680
Disease: Malignant neoplasm of ovary
315 0.807 0.240 7 5987504 stop gained G/A snv 7.0E-06 0.010 1.000 1 2019 2019
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
757 0.807 0.240 7 5987504 stop gained G/A snv 7.0E-06 0.010 1.000 1 2019 2019