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: rs140118273
rs140118273
MUTYH
0.882 0.080 1 45329412 missense variant G/A;C snv 8.4E-03
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2004 2004
dbSNP: rs140118273
rs140118273
MUTYH
0.882 0.080 1 45329412 missense variant G/A;C snv 8.4E-03
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2004 2004
dbSNP: rs140118273
rs140118273
MUTYH
0.882 0.080 1 45329412 missense variant G/A;C snv 8.4E-03
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2004 2004
dbSNP: rs143353451
rs143353451
MUTYH
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 		0.010 1.000 1 2004 2004
dbSNP: rs143353451
rs143353451
MUTYH
0.851 0.120 1 45332794 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 1.2E-05
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2004 2004
dbSNP: rs3219484
rs3219484
MUTYH
0.807 0.160 1 45334484 missense variant C/A;T snv 4.8E-02 4.8E-02
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2004 2004
dbSNP: rs3219484
rs3219484
MUTYH
0.807 0.160 1 45334484 missense variant C/A;T snv 4.8E-02 4.8E-02
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2004 2004
dbSNP: rs3219484
rs3219484
MUTYH
0.807 0.160 1 45334484 missense variant C/A;T snv 4.8E-02 4.8E-02
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2004 2004
dbSNP: rs121908380
rs121908380
MUTYH
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 		0.010 1.000 1 2005 2005
dbSNP: rs150269172
rs150269172
MUTYH
1.000 0.040 1 45331209 synonymous variant G/A snv 2.9E-03 8.7E-04
CUI: C0334108
Disease: Multiple polyps
Multiple polyps 		0.010 1.000 1 2005 2005
dbSNP: rs200844166
rs200844166
MUTYH
0.882 0.160 1 45331240 missense variant G/T snv 2.4E-05 5.6E-05
CUI: C0334108
Disease: Multiple polyps
Multiple polyps 		0.010 1.000 1 2005 2005
dbSNP: rs34126013
rs34126013
MUTYH
0.925 0.160 1 45332458 missense variant G/A snv 6.8E-05 2.1E-05
CUI: C0334108
Disease: Multiple polyps
Multiple polyps 		0.010 1.000 1 2005 2005
dbSNP: rs587780749
rs587780749
MUTYH
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 		0.010 1.000 1 2005 2005
dbSNP: rs74318065
rs74318065
MUTYH
1.000 0.040 1 45331227 synonymous variant C/G;T snv 4.6E-03
CUI: C0334108
Disease: Multiple polyps
Multiple polyps 		0.010 1.000 1 2005 2005
dbSNP: rs34612342
rs34612342
MUTYH
0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03
CUI: C0206677
Disease: Adenomatous Polyps
Adenomatous Polyps 		0.020 0.500 2 2004 2006
dbSNP: rs36053993
rs36053993
MUTYH
0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03
CUI: C0206677
Disease: Adenomatous Polyps
Adenomatous Polyps 		0.020 0.500 2 2004 2006
dbSNP: rs146044717
rs146044717
MUTYH
0.925 0.080 1 45332218 missense variant C/T snv 4.8E-05 4.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 < 0.001 1 2006 2006
dbSNP: rs146044717
rs146044717
MUTYH
0.925 0.080 1 45332218 missense variant C/T snv 4.8E-05 4.2E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 < 0.001 1 2006 2006
dbSNP: rs34612342
rs34612342
MUTYH
0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		0.010 1.000 1 2006 2006
dbSNP: rs34612342
rs34612342
MUTYH
0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2006 2006
dbSNP: rs36053993
rs36053993
MUTYH
0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2006 2006
dbSNP: rs36053993
rs36053993
MUTYH
0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		0.010 1.000 1 2006 2006
dbSNP: rs730881835
rs730881835
MUTYH
0.925 0.080 1 45331496 missense variant T/C;G snv 1.2E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 < 0.001 1 2006 2006
dbSNP: rs730881835
rs730881835
MUTYH
0.925 0.080 1 45331496 missense variant T/C;G snv 1.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 < 0.001 1 2006 2006
dbSNP: rs34612342
rs34612342
MUTYH
0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		0.020 1.000 2 2003 2007