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: 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: 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: 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: rs3219476
rs3219476
MUTYH
0.882 0.200 1 45336998 intron variant A/C snv 0.58
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		0.010 1.000 1 2013 2013
dbSNP: rs3219476
rs3219476
MUTYH
0.882 0.200 1 45336998 intron variant A/C snv 0.58
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		0.010 1.000 1 2013 2013
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: 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: 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: rs3219489
rs3219489
MUTYH
0.672 0.360 1 45331833 missense variant C/A;G snv 0.29 0.27
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2012 2012
dbSNP: rs3219489
rs3219489
MUTYH
0.672 0.360 1 45331833 missense variant C/A;G snv 0.29 0.27
CUI: C0279671
Disease: Cervical Squamous Cell Carcinoma
Cervical Squamous Cell Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs3219489
rs3219489
MUTYH
0.672 0.360 1 45331833 missense variant C/A;G snv 0.29 0.27
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		0.010 1.000 1 2011 2011
dbSNP: rs3219489
rs3219489
MUTYH
0.672 0.360 1 45331833 missense variant C/A;G snv 0.29 0.27
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2008 2008
dbSNP: rs3219489
rs3219489
MUTYH
0.672 0.360 1 45331833 missense variant C/A;G snv 0.29 0.27
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs3219489
rs3219489
MUTYH
0.672 0.360 1 45331833 missense variant C/A;G snv 0.29 0.27
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2016 2016