rs143277125, PMS2

N. diseases: 6
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.
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.851 0.160 7 5992012 stop gained G/A;T snv 4.0E-06 0.700 1.000 4 2008 2011
Hereditary Nonpolyposis Colorectal Cancer
1331 0.851 0.160 7 5992012 stop gained G/A;T snv 4.0E-06 0.700 0
Hereditary Nonpolyposis Colorectal Neoplasms
875 0.851 0.160 7 5992012 stop gained G/A;T snv 4.0E-06 0.700 0
Adult Medulloblastoma
CUI: C0278876
Disease: Adult Medulloblastoma
24 0.851 0.160 7 5992012 stop gained G/A;T snv 4.0E-06 0.010 1.000 1 2009 2009
Childhood Medulloblastoma
CUI: C0278510
Disease: Childhood Medulloblastoma
25 0.851 0.160 7 5992012 stop gained G/A;T snv 4.0E-06 0.010 1.000 1 2009 2009
Medulloblastoma
CUI: C0025149
Disease: Medulloblastoma
115 0.851 0.160 7 5992012 stop gained G/A;T snv 4.0E-06 0.010 1.000 1 2009 2009