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: rs454886
rs454886
APC
0.763 0.280 5 112810420 intron variant A/G snv 0.26
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2008 2008
dbSNP: rs454886
rs454886
APC
0.763 0.280 5 112810420 intron variant A/G snv 0.26
CUI: C0038362
Disease: Stomatitis
Stomatitis 		0.010 1.000 1 2016 2016
dbSNP: rs454886
rs454886
APC
0.763 0.280 5 112810420 intron variant A/G snv 0.26
CUI: C0033036
Disease: Atrial Premature Complexes
Atrial Premature Complexes 		0.010 1.000 1 2008 2008
dbSNP: rs75612255
rs75612255
APC
1.000 0.040 5 112737543 intron variant T/C snv
CUI: C0023418
Disease: leukemia
leukemia 		0.010 1.000 1 2016 2016
dbSNP: rs786201856
rs786201856
APC
0.776 0.200 5 112815507 stop gained C/T snv
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		0.730 1.000 3 2000 2016
dbSNP: rs121913331
rs121913331
APC
0.851 0.120 5 112838934 stop gained C/A;T snv 8.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 1.000 2 2007 2017
dbSNP: rs121913331
rs121913331
APC
0.851 0.120 5 112838934 stop gained C/A;T snv 8.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 1.000 2 2007 2017
dbSNP: rs121913333
rs121913333
APC
0.882 0.120 5 112838220 stop gained C/A;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 1.000 2 2015 2016
dbSNP: rs137854580
rs137854580
APC
0.827 0.120 5 112827194 stop gained C/G;T snv 2.8E-05
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		0.720 1.000 2 2000 2012
dbSNP: rs62619935
rs62619935
APC
0.807 0.120 5 112792446 stop gained C/G;T snv 4.0E-06
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		0.720 1.000 2 2000 2012
dbSNP: rs121913331
rs121913331
APC
0.851 0.120 5 112838934 stop gained C/A;T snv 8.0E-06
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 1.000 1 2007 2007
dbSNP: rs121913331
rs121913331
APC
0.851 0.120 5 112838934 stop gained C/A;T snv 8.0E-06
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		0.010 1.000 1 2017 2017
dbSNP: rs121913331
rs121913331
APC
0.851 0.120 5 112838934 stop gained C/A;T snv 8.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2017 2017
dbSNP: rs121913331
rs121913331
APC
0.851 0.120 5 112838934 stop gained C/A;T snv 8.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2007 2007
dbSNP: rs121913332
rs121913332
APC
0.925 0.120 5 112839942 stop gained C/G;T snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2013 2013
dbSNP: rs121913333
rs121913333
APC
0.882 0.120 5 112838220 stop gained C/A;T snv
CUI: C0017097
Disease: Gardner Syndrome
Gardner Syndrome 		0.010 1.000 1 2016 2016
dbSNP: rs137854573
rs137854573
APC
0.807 0.120 5 112828889 stop gained C/T snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2018 2018
dbSNP: rs137854573
rs137854573
APC
0.807 0.120 5 112828889 stop gained C/T snv
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma 		0.010 1.000 1 2018 2018
dbSNP: rs137854574
rs137854574
APC
0.925 0.120 5 112828919 stop gained C/T snv
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma 		0.010 1.000 1 2018 2018
dbSNP: rs137854574
rs137854574
APC
0.925 0.120 5 112828919 stop gained C/T snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2018 2018
dbSNP: rs137854575
rs137854575
APC
0.807 0.120 5 112838399 stop gained C/A;G;T snv 4.7E-04
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		0.710 1.000 1 1992 2009
dbSNP: rs137854580
rs137854580
APC
0.827 0.120 5 112827194 stop gained C/G;T snv 2.8E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs137854580
rs137854580
APC
0.827 0.120 5 112827194 stop gained C/G;T snv 2.8E-05
CUI: C0339555
Disease: Congenital hypertrophy of retinal pigment epithelium
Congenital hypertrophy of retinal pigment epithelium 		0.010 1.000 1 2000 2000
dbSNP: rs2229992
rs2229992
APC
0.827 0.200 5 112827157 stop gained T/C;G snv 0.58 0.47
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2011 2011
dbSNP: rs2229992
rs2229992
APC
0.827 0.200 5 112827157 stop gained T/C;G snv 0.58 0.47
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 1.000 1 2005 2005