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: 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: rs1057517457
rs1057517457
MUTYH
0.851 0.120 1 45332804 frameshift variant GCCAGCCCAG/- delins 7.0E-06
CUI: C0001430
Disease: Adenoma
Adenoma 		0.010 1.000 1 2013 2013
dbSNP: rs1057517457
rs1057517457
MUTYH
0.851 0.120 1 45332804 frameshift variant GCCAGCCCAG/- delins 7.0E-06
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis 		0.010 1.000 1 2015 2015
dbSNP: rs1057517457
rs1057517457
MUTYH
0.851 0.120 1 45332804 frameshift variant GCCAGCCCAG/- delins 7.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs1060501327
rs1060501327
MUTYH
0.851 0.080 1 45332251 missense variant A/G snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2012 2012
dbSNP: rs1060501327
rs1060501327
MUTYH
0.851 0.080 1 45332251 missense variant A/G snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2012 2012
dbSNP: rs1060501327
rs1060501327
MUTYH
0.851 0.080 1 45332251 missense variant A/G snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2012 2012
dbSNP: rs1060501327
rs1060501327
MUTYH
0.851 0.080 1 45332251 missense variant A/G snv
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.010 1.000 1 2012 2012
dbSNP: rs1060501343
rs1060501343
MUTYH ; TOE1
1.000 0.040 1 45340221 splice donor variant A/G snv
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.010 1.000 1 2012 2012
dbSNP: rs112422930
rs112422930
MUTYH
0.882 0.160 1 45332409 missense variant A/C snv 7.0E-06
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.010 1.000 1 2011 2011
dbSNP: rs112422930
rs112422930
MUTYH
0.882 0.160 1 45332409 missense variant A/C snv 7.0E-06
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis 		0.010 1.000 1 2007 2007
dbSNP: rs112422930
rs112422930
MUTYH
0.882 0.160 1 45332409 missense variant A/C snv 7.0E-06
CUI: C0334108
Disease: Multiple polyps
Multiple polyps 		0.010 1.000 1 2007 2007
dbSNP: rs112422930
rs112422930
MUTYH
0.882 0.160 1 45332409 missense variant A/C snv 7.0E-06
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		0.010 1.000 1 2011 2011
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: rs1374712964
rs1374712964
MUTYH
1.000 0.080 1 45332028 missense variant T/C snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs1374712964
rs1374712964
MUTYH
1.000 0.080 1 45332028 missense variant T/C snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2013 2013
dbSNP: rs138089183
rs138089183
MUTYH
0.925 0.120 1 45332174 missense variant G/A snv 4.5E-04 5.0E-04
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis 		0.010 1.000 1 2015 2015
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: 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: 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: 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