rs1057515572, 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.
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
CUI: C1838333
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
50 0.882 0.200 7 5987033 frameshift variant GC/ACT delins 0.700 1.000 1 2007 2007
Hyperinsulinism
CUI: C0020459
Disease: Hyperinsulinism
64 0.882 0.200 7 5987033 frameshift variant GC/ACT delins 0.700 1.000 1 2007 2007
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.882 0.200 7 5987033 frameshift variant GC/ACT delins 0.700 1.000 1 2007 2007
Melanocortin 4 Receptor Deficiency
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
28 0.882 0.200 7 5987033 frameshift variant GC/ACT delins 0.700 1.000 1 2007 2007
Overgrowth
CUI: C1849265
Disease: Overgrowth
93 0.882 0.200 7 5987033 frameshift variant GC/ACT delins 0.700 1.000 1 2007 2007
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.882 0.200 7 5987033 frameshift variant GC/ACT delins 0.700 1.000 1 2007 2007
Tall stature
CUI: C0241240
Disease: Tall stature
14 0.882 0.200 7 5987033 frameshift variant GC/ACT delins 0.700 1.000 1 2007 2007
Turcot syndrome (disorder)
CUI: C0265325
Disease: Turcot syndrome (disorder)
75 0.882 0.200 7 5987033 frameshift variant GC/ACT delins 0.700 0