Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Colorectal Adenomatous Polyposis, Autosomal Recessive
75 0.699 0.214 1 45331556 missense variant C/T snp 3.0E-03 3.3E-03 0.800 46 1993 2017
MUTYH-Associate Polyposis
CUI: C3272841
Disease: MUTYH-Associate Polyposis
20 0.699 0.214 1 45331556 missense variant C/T snp 3.0E-03 3.3E-03 0.740 1.000 11 2005 2017
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
240 0.699 0.214 1 45331556 missense variant C/T snp 3.0E-03 3.3E-03 0.710 1.000 6 2002 2016
Stomach Neoplasms
CUI: C0038356
Disease: Stomach Neoplasms
23 0.699 0.214 1 45331556 missense variant C/T snp 3.0E-03 3.3E-03 0.700 23 2002 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
4866 0.699 0.214 1 45331556 missense variant C/T snp 3.0E-03 3.3E-03 0.700 14 2009 2017
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
145 0.699 0.214 1 45331556 missense variant C/T snp 3.0E-03 3.3E-03 0.700 4 2002 2011
Small intestine carcinoid
CUI: C1868072
Disease: Small intestine carcinoid
1 0.699 0.214 1 45331556 missense variant C/T snp 3.0E-03 3.3E-03 0.700 1 2018 2018
Pilomatrixoma
CUI: C0206711
Disease: Pilomatrixoma
11 0.699 0.214 1 45331556 missense variant C/T snp 3.0E-03 3.3E-03 0.700 1 2015 2015
FAMILIAL ADENOMATOUS POLYPOSIS 2 WITH PILOMATRICOMAS
1 0.699 0.214 1 45331556 missense variant C/T snp 3.0E-03 3.3E-03 0.700 1 2015 2015
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
539 0.699 0.214 1 45331556 missense variant C/T snp 3.0E-03 3.3E-03 0.070 1.000 7 2004 2011
Colorectal Cancer
CUI: C1527249
Disease: Colorectal Cancer
955 0.699 0.214 1 45331556 missense variant C/T snp 3.0E-03 3.3E-03 0.070 0.857 7 2004 2011
Adenomatous Polyposis Coli
CUI: C0032580
Disease: Adenomatous Polyposis Coli
31 0.699 0.214 1 45331556 missense variant C/T snp 3.0E-03 3.3E-03 0.020 1.000 2 2003 2007
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
1365 0.699 0.214 1 45331556 missense variant C/T snp 3.0E-03 3.3E-03 0.020 0.500 2 2009 2012
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
1839 0.699 0.214 1 45331556 missense variant C/T snp 3.0E-03 3.3E-03 0.020 0.500 2 2009 2012
Adenomatous Polyps
CUI: C0206677
Disease: Adenomatous Polyps
8 0.699 0.214 1 45331556 missense variant C/T snp 3.0E-03 3.3E-03 0.020 0.500 2 2004 2006
Cholangiocarcinoma
CUI: C0206698
Disease: Cholangiocarcinoma
13 0.699 0.214 1 45331556 missense variant C/T snp 3.0E-03 3.3E-03 0.010 1.000 1 2007 2007
Multiple polyps
CUI: C0334108
Disease: Multiple polyps
20 0.699 0.214 1 45331556 missense variant C/T snp 3.0E-03 3.3E-03 0.010 1.000 1 2014 2014
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
419 0.699 0.214 1 45331556 missense variant C/T snp 3.0E-03 3.3E-03 0.010 1.000 1 2007 2007
Adenoma
CUI: C0001430
Disease: Adenoma
73 0.699 0.214 1 45331556 missense variant C/T snp 3.0E-03 3.3E-03 0.010 1.000 1 2010 2010
polyps
CUI: C0032584
Disease: polyps
19 0.699 0.214 1 45331556 missense variant C/T snp 3.0E-03 3.3E-03 0.010 1.000 1 2004 2004