MUTYH, mutY DNA glycosylase, 4595

N. diseases: 156; N. variants: 174
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs35352891
rs35352891
0.827 0.200 1 45331729 missense variant G/A snv 3.8E-04 1.1E-04
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs529008617
rs529008617
0.851 0.160 1 45331529 missense variant G/A snv 7.2E-05 2.8E-05
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs730881833
rs730881833
0.827 0.160 1 45332242 missense variant C/A;T snv 4.0E-06; 2.8E-05
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs863224501
rs863224501
0.925 0.160 1 45331519 frameshift variant TCACGGACGGG/- delins 2.1E-05
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012