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: rs34612342
rs34612342
0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.800 1.000 17 2002 2019
dbSNP: rs36053993
rs36053993
0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.800 0.941 17 2002 2019
dbSNP: rs587780078
rs587780078
0.882 0.120 1 45331514 frameshift variant -/CC delins 1.6E-04 2.7E-04
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.700 1.000 6 2004 2012
dbSNP: rs587783057
rs587783057
0.925 0.120 1 45331676 stop gained G/A snv 1.2E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.700 1.000 6 2005 2009
dbSNP: rs529008617
rs529008617
0.851 0.160 1 45331529 missense variant G/A snv 7.2E-05 2.8E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.700 1.000 4 2005 2010
dbSNP: rs587778536
rs587778536
0.882 0.120 1 45331700 frameshift variant G/- delins 6.4E-05 4.2E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.700 1.000 4 2006 2009
dbSNP: rs587780088
rs587780088
0.882 0.120 1 45334493 stop gained G/A;C snv 8.0E-06; 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.700 1.000 4 2008 2009
dbSNP: rs587782885
rs587782885
0.925 0.120 1 45332440 stop gained G/A;C snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.700 1.000 4 2005 2009
dbSNP: rs587781628
rs587781628
0.882 0.120 1 45331558 splice acceptor variant T/C snv 2.4E-05 7.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.700 1.000 3 2004 2005
dbSNP: rs3219489
rs3219489
0.672 0.360 1 45331833 missense variant C/A;G snv 0.29 0.27
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.060 0.833 6 2008 2018
dbSNP: rs369410616
rs369410616
0.752 0.280 1 45329400 missense variant C/T snv 2.0E-05 2.8E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.020 0.500 2 2008 2013
dbSNP: rs1057517457
rs1057517457
0.851 0.120 1 45332804 frameshift variant GCCAGCCCAG/- delins 7.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs1374712964
rs1374712964
1.000 0.080 1 45332028 missense variant T/C snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs143353451
rs143353451
0.851 0.120 1 45332794 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 1.2E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2004 2004
dbSNP: rs587782041
rs587782041
0.925 0.080 1 45333297 missense variant G/A;T snv 6.0E-05 7.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs754155145
rs754155145
0.925 0.120 1 45332773 missense variant C/A;T snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs763693540
rs763693540
1.000 0.080 1 45333573 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs765123255
rs765123255
0.851 0.120 1 45333436 missense variant G/A snv 4.0E-05 4.2E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs771683103
rs771683103
0.925 0.120 1 45332048 synonymous variant C/G;T snv 1.2E-05; 1.2E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs863224699
rs863224699
1.000 0.080 1 45332393 splice region variant G/A;C snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011