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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 0.500 2 2009 2019
dbSNP: rs34612342
rs34612342
MUTYH
0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm 		0.020 1.000 2 2011 2015
dbSNP: rs34612342
rs34612342
MUTYH
0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		0.020 1.000 2 2002 2019
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
dbSNP: rs34612342
rs34612342
MUTYH
0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		0.020 1.000 2 2011 2015
dbSNP: rs34612342
rs34612342
MUTYH
0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 0.500 2 2009 2019
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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 1.000 2 2011 2012
dbSNP: rs36053993
rs36053993
MUTYH
0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 1.000 2 2011 2012
dbSNP: rs36053993
rs36053993
MUTYH
0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03
CUI: C0001430
Disease: Adenoma
Adenoma 		0.020 1.000 2 2010 2012
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: rs369410616
rs369410616
MUTYH
0.752 0.280 1 45329400 missense variant C/T snv 2.0E-05 2.8E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.020 0.500 2 2008 2013
dbSNP: rs369410616
rs369410616
MUTYH
0.752 0.280 1 45329400 missense variant C/T snv 2.0E-05 2.8E-05
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		0.020 1.000 2 2013 2015
dbSNP: rs771683103
rs771683103
MUTYH
0.925 0.120 1 45332048 synonymous variant C/G;T snv 1.2E-05; 1.2E-05
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.020 1.000 2 2012 2012
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