Source: ALL

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: rs12953717
rs12953717
SMAD7
0.724 0.240 18 48927559 intron variant C/T snv 0.36
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.010 < 0.001 1 2008 2008
dbSNP: rs12953717
rs12953717
SMAD7
0.724 0.240 18 48927559 intron variant C/T snv 0.36
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 1.000 1 2009 2009
dbSNP: rs12953717
rs12953717
SMAD7
0.724 0.240 18 48927559 intron variant C/T snv 0.36
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.010 1.000 1 2009 2009
dbSNP: rs12953717
rs12953717
SMAD7
0.724 0.240 18 48927559 intron variant C/T snv 0.36
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		0.010 1.000 1 2009 2009
dbSNP: rs4939827
rs4939827
SMAD7
0.708 0.160 18 48927093 intron variant T/A;C snv
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		0.010 1.000 1 2009 2009
dbSNP: rs751275028
rs751275028
SMAD7
1.000 0.080 18 48921904 missense variant T/C snv 1.4E-05
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2009 2009
dbSNP: rs4464148
rs4464148
SMAD7
0.827 0.120 18 48932662 intron variant T/C snv 0.25
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.020 1.000 2 2009 2010
dbSNP: rs4464148
rs4464148
SMAD7
0.827 0.120 18 48932662 intron variant T/C snv 0.25
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.020 1.000 2 2009 2010
dbSNP: rs12953717
rs12953717
SMAD7
0.724 0.240 18 48927559 intron variant C/T snv 0.36
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 1.000 1 2010 2010
dbSNP: rs4939827
rs4939827
SMAD7
0.708 0.160 18 48927093 intron variant T/A;C snv
CUI: C0242510
Disease: Drug usage
Drug usage 		0.010 1.000 1 2010 2010
dbSNP: rs4939827
rs4939827
SMAD7
0.708 0.160 18 48927093 intron variant T/A;C snv
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		0.700 1.000 1 2010 2010
dbSNP: rs4464148
rs4464148
SMAD7
0.827 0.120 18 48932662 intron variant T/C snv 0.25
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 1.000 2 2009 2011
dbSNP: rs4464148
rs4464148
SMAD7
0.827 0.120 18 48932662 intron variant T/C snv 0.25
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 < 0.001 1 2011 2011
dbSNP: rs4464148
rs4464148
SMAD7
0.827 0.120 18 48932662 intron variant T/C snv 0.25
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 < 0.001 1 2011 2011
dbSNP: rs4939827
rs4939827
SMAD7
0.708 0.160 18 48927093 intron variant T/A;C snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 < 0.001 1 2011 2011
dbSNP: rs4939827
rs4939827
SMAD7
0.708 0.160 18 48927093 intron variant T/A;C snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 < 0.001 1 2011 2011
dbSNP: rs2337107
rs2337107
SMAD7
0.882 0.120 18 48932953 intron variant C/T snv 0.52
CUI: C0431109
Disease: Choroid Plexus Carcinoma
Choroid Plexus Carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs4464148
rs4464148
SMAD7
0.827 0.120 18 48932662 intron variant T/C snv 0.25
CUI: C0431109
Disease: Choroid Plexus Carcinoma
Choroid Plexus Carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs4939827
rs4939827
SMAD7
0.708 0.160 18 48927093 intron variant T/A;C snv
CUI: C0237123
Disease: Alcohol or Other Drugs use
Alcohol or Other Drugs use 		0.010 1.000 1 2012 2012
dbSNP: rs12953717
rs12953717
SMAD7
0.724 0.240 18 48927559 intron variant C/T snv 0.36
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 1.000 2 2011 2013
dbSNP: rs12953717
rs12953717
SMAD7
0.724 0.240 18 48927559 intron variant C/T snv 0.36
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 1.000 2 2011 2013
dbSNP: rs11874392
rs11874392
SMAD7
0.763 0.080 18 48926786 intron variant A/T snv 0.50
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2013 2013
dbSNP: rs3809922
rs3809922
SMAD7
1.000 0.040 18 48921759 synonymous variant G/A;C;T snv 3.5E-02; 4.4E-05; 3.6E-05
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.010 1.000 1 2013 2013
dbSNP: rs3809923
rs3809923
SMAD7
1.000 0.040 18 48921447 synonymous variant G/C snv 3.5E-02 1.2E-02
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.010 1.000 1 2013 2013
dbSNP: rs4939827
rs4939827
SMAD7
0.708 0.160 18 48927093 intron variant T/A;C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2013 2013