rs63749795, MLH1

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.
Torre-Muir syndrome
CUI: C1321489
Disease: Torre-Muir syndrome
20 0.807 0.240 3 37028833 stop gained C/T snv 0.710 1.000 1 2019 2019
Hereditary Nonpolyposis Colorectal Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
1331 0.807 0.240 3 37028833 stop gained C/T snv 0.700 1.000 14 1992 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.807 0.240 3 37028833 stop gained C/T snv 0.700 1.000 6 2000 2016
Hereditary Non-Polyposis Colon Cancer Type 2
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
154 0.807 0.240 3 37028833 stop gained C/T snv 0.700 1.000 1 2012 2012
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
875 0.807 0.240 3 37028833 stop gained C/T snv 0.700 0
Turcot syndrome (disorder)
CUI: C0265325
Disease: Turcot syndrome (disorder)
75 0.807 0.240 3 37028833 stop gained C/T snv 0.700 0
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.807 0.240 3 37028833 stop gained C/T snv 0.010 1.000 1 2020 2020
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.807 0.240 3 37028833 stop gained C/T snv 0.010 1.000 1 2020 2020