rs63750451, PMS2

N. diseases: 7
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 0.827 0.160 7 5986883 stop gained G/A;C snv 1.6E-05 0.700 1.000 6 2006 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.827 0.160 7 5986883 stop gained G/A;C snv 1.6E-05 0.700 1.000 4 2006 2016
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
CUI: C1838333
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
50 0.827 0.160 7 5986883 stop gained G/A;C snv 1.6E-05 0.700 0
Hereditary Nonpolyposis Colorectal Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
1331 0.827 0.160 7 5986883 stop gained G/A;C snv 1.6E-05 0.700 0
Adult Medulloblastoma
CUI: C0278876
Disease: Adult Medulloblastoma
24 0.827 0.160 7 5986883 stop gained G/A;C snv 1.6E-05 0.010 1.000 1 2009 2009
Childhood Medulloblastoma
CUI: C0278510
Disease: Childhood Medulloblastoma
25 0.827 0.160 7 5986883 stop gained G/A;C snv 1.6E-05 0.010 1.000 1 2009 2009
Medulloblastoma
CUI: C0025149
Disease: Medulloblastoma
115 0.827 0.160 7 5986883 stop gained G/A;C snv 1.6E-05 0.010 1.000 1 2009 2009