Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs34612342
rs34612342
MUTYH
0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.800 1.000 13 2002 2019
dbSNP: rs36053993
rs36053993
MUTYH
0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.800 0.941 13 2002 2019
dbSNP: rs34612342
rs34612342
MUTYH
0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis 		0.800 1.000 10 2005 2019
dbSNP: rs36053993
rs36053993
MUTYH
0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis 		0.770 1.000 7 2005 2017
dbSNP: rs140342925
rs140342925
MUTYH
0.882 0.120 1 45332445 missense variant C/T snv 8.4E-05 8.4E-05
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis 		0.710 1.000 1 2005 2015
dbSNP: rs34612342
rs34612342
MUTYH
0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.710 1.000 1 2015 2015
dbSNP: rs587780078
rs587780078
MUTYH
0.882 0.120 1 45331514 frameshift variant -/CC delins 1.6E-04 2.7E-04
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis 		0.710 1.000 1 2009 2020
dbSNP: rs3219489
rs3219489
MUTYH
0.672 0.360 1 45331833 missense variant C/A;G snv 0.29 0.27
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.060 0.833 6 2008 2018
dbSNP: rs34612342
rs34612342
MUTYH
0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.050 1.000 5 2002 2011
dbSNP: rs36053993
rs36053993
MUTYH
0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03
CUI: C0032584
Disease: polyps
polyps 		0.040 1.000 4 2012 2019
dbSNP: rs34612342
rs34612342
MUTYH
0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03
CUI: C0032584
Disease: polyps
polyps 		0.030 1.000 3 2012 2019
dbSNP: rs34612342
rs34612342
MUTYH
0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03
CUI: C0001430
Disease: Adenoma
Adenoma 		0.030 1.000 3 2010 2015
dbSNP: rs36053993
rs36053993
MUTYH
0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.030 1.000 3 2004 2011
dbSNP: rs36053993
rs36053993
MUTYH
0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		0.030 1.000 3 2003 2008
dbSNP: rs36053993
rs36053993
MUTYH
0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 0.667 3 2009 2019
dbSNP: rs36053993
rs36053993
MUTYH
0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 0.667 3 2009 2019
dbSNP: rs1057517457
rs1057517457
MUTYH
0.851 0.120 1 45332804 frameshift variant GCCAGCCCAG/- delins 7.0E-06
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		0.020 1.000 2 2013 2015
dbSNP: rs3219463
rs3219463
MUTYH ; TOE1
0.925 0.120 1 45340760 5 prime UTR variant C/T snv 0.27
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.020 1.000 2 2015 2017
dbSNP: rs3219476
rs3219476
MUTYH
0.882 0.200 1 45336998 intron variant A/C snv 0.58
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.020 1.000 2 2015 2017
dbSNP: rs3219489
rs3219489
MUTYH
0.672 0.360 1 45331833 missense variant C/A;G snv 0.29 0.27
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.020 1.000 2 2004 2009
dbSNP: rs3219489
rs3219489
MUTYH
0.672 0.360 1 45331833 missense variant C/A;G snv 0.29 0.27
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.020 1.000 2 2004 2009
dbSNP: rs3219489
rs3219489
MUTYH
0.672 0.360 1 45331833 missense variant C/A;G snv 0.29 0.27
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.020 1.000 2 2012 2012
dbSNP: rs3219489
rs3219489
MUTYH
0.672 0.360 1 45331833 missense variant C/A;G snv 0.29 0.27
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.020 1.000 2 2004 2009
dbSNP: rs3219489
rs3219489
MUTYH
0.672 0.360 1 45331833 missense variant C/A;G snv 0.29 0.27
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		0.020 1.000 2 2013 2015
dbSNP: rs34612342
rs34612342
MUTYH
0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 1.000 2 2017 2019