rs121434629, PMS2

N. diseases: 12
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 0.763 0.320 7 6005918 missense variant C/A;T snv 1.6E-04; 8.1E-06 0.800 1.000 12 2005 2017
Turcot syndrome (disorder)
CUI: C0265325
Disease: Turcot syndrome (disorder)
53 0.763 0.320 7 6005918 missense variant C/A;T snv 1.6E-04; 8.1E-06 0.800 0
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6385 0.763 0.320 7 6005918 missense variant C/A;T snv 1.6E-04; 8.1E-06 0.700 1.000 26 2004 2018
Hereditary Nonpolyposis Colorectal Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
1268 0.763 0.320 7 6005918 missense variant C/A;T snv 1.6E-04; 8.1E-06 0.700 1.000 25 1995 2018
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
875 0.763 0.320 7 6005918 missense variant C/A;T snv 1.6E-04; 8.1E-06 0.700 1.000 10 2005 2016
Cancer Other
CUI: C1707251
Disease: Cancer Other
2 0.763 0.320 7 6005918 missense variant C/A;T snv 1.6E-04; 8.1E-06 0.700 0
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
28 0.763 0.320 7 6005918 missense variant C/A;T snv 1.6E-04; 8.1E-06 0.700 0
Kidney Neoplasm
CUI: C0022665
Disease: Kidney Neoplasm
6 0.763 0.320 7 6005918 missense variant C/A;T snv 1.6E-04; 8.1E-06 0.700 0
leukemia
CUI: C0023418
Disease: leukemia
2 0.763 0.320 7 6005918 missense variant C/A;T snv 1.6E-04; 8.1E-06 0.700 0
Lymphoma
CUI: C0024299
Disease: Lymphoma
10 0.763 0.320 7 6005918 missense variant C/A;T snv 1.6E-04; 8.1E-06 0.700 0
Malignant neoplasm of urinary bladder
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
17 0.763 0.320 7 6005918 missense variant C/A;T snv 1.6E-04; 8.1E-06 0.700 0
Pituitary carcinoma
CUI: C0346300
Disease: Pituitary carcinoma
1 0.763 0.320 7 6005918 missense variant C/A;T snv 1.6E-04; 8.1E-06 0.700 0