MUTYH, mutY DNA glycosylase, 4595

N. diseases: 156; N. variants: 174
Disease: Multiple polyps ×
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: rs112422930
rs112422930 		0.882 0.160 1 45332409 missense variant A/C snv 7.0E-06
CUI: C0334108
Disease: Multiple polyps
Multiple polyps 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2007 2007
dbSNP: rs121908380
rs121908380 		0.882 0.160 1 45333449 stop gained G/A;T snv 1.4E-03; 1.2E-04
CUI: C0334108
Disease: Multiple polyps
Multiple polyps 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2005 2005
dbSNP: rs150269172
rs150269172 		1.000 0.040 1 45331209 synonymous variant G/A snv 2.9E-03 8.7E-04
CUI: C0334108
Disease: Multiple polyps
Multiple polyps 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2005 2005
dbSNP: rs200844166
rs200844166 		0.882 0.160 1 45331240 missense variant G/T snv 2.4E-05 5.6E-05
CUI: C0334108
Disease: Multiple polyps
Multiple polyps 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2005 2005
dbSNP: rs34126013
rs34126013 		0.925 0.160 1 45332458 missense variant G/A snv 6.8E-05 2.1E-05
CUI: C0334108
Disease: Multiple polyps
Multiple polyps 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2005 2005
dbSNP: rs36053993
rs36053993 		0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03
CUI: C0334108
Disease: Multiple polyps
Multiple polyps 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2013 2013
dbSNP: rs587780749
rs587780749 		0.925 0.160 1 45332443 missense variant C/A;T snv 5.6E-05; 8.0E-06
CUI: C0334108
Disease: Multiple polyps
Multiple polyps 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2005 2005
dbSNP: rs730881834
rs730881834 		0.882 0.120 1 45332181 missense variant G/C snv
CUI: C0334108
Disease: Multiple polyps
Multiple polyps 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2018 2018
dbSNP: rs74318065
rs74318065 		1.000 0.040 1 45331227 synonymous variant C/G;T snv 4.6E-03
CUI: C0334108
Disease: Multiple polyps
Multiple polyps 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2005 2005