rs36053993, MUTYH

N. diseases: 31
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.
Small intestine carcinoid
CUI: C1868072
Disease: Small intestine carcinoid
1 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.700 1.000 1 2017 2017
FAMILIAL ADENOMATOUS POLYPOSIS 2 WITH PILOMATRICOMAS
CUI: C4016911
Disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 WITH PILOMATRICOMAS
1 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.700 0
Pilomatrixoma
CUI: C0206711
Disease: Pilomatrixoma
14 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.700 0
polyps
CUI: C0032584
Disease: polyps
18 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.040 1.000 4 2012 2019
Adenomatous Polyps
CUI: C0206677
Disease: Adenomatous Polyps
20 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.020 0.500 2 2004 2006
Neuroendocrine Tumors
CUI: C0206754
Disease: Neuroendocrine Tumors
20 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.010 1.000 1 2017 2017
Multiple polyps
CUI: C0334108
Disease: Multiple polyps
32 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.010 1.000 1 2013 2013
MUTYH-Associate Polyposis
CUI: C3272841
Disease: MUTYH-Associate Polyposis
36 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.770 1.000 14 2005 2017
Cholangiocarcinoma
CUI: C0206698
Disease: Cholangiocarcinoma
43 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.010 1.000 1 2006 2006
Congenital contractural arachnodactyly
CUI: C0220668
Disease: Congenital contractural arachnodactyly
48 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.010 1.000 1 2014 2014
Stomach Neoplasms
CUI: C0038356
Disease: Stomach Neoplasms
55 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.700 1.000 23 2002 2014
Adenoma
CUI: C0001430
Disease: Adenoma
103 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.020 1.000 2 2010 2012
Colorectal Adenomatous Polyposis, Autosomal Recessive
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
112 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.800 1.000 43 2002 2016
Adenoma of large intestine
CUI: C1302401
Disease: Adenoma of large intestine
213 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.010 1.000 1 2019 2019
Adenomatous Polyposis Coli
CUI: C0032580
Disease: Adenomatous Polyposis Coli
237 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.030 1.000 3 2003 2008
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
275 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.010 1.000 1 2015 2015
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.010 1.000 1 2017 2017
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
326 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.700 0
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
355 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.010 1.000 1 2017 2017
Malignant neoplasm of colon and/or rectum
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
502 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.030 1.000 3 2004 2011
melanoma
CUI: C0025202
Disease: melanoma
515 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.010 1.000 1 2011 2011
Inflammatory Bowel Diseases
CUI: C0021390
Disease: Inflammatory Bowel Diseases
605 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.010 1.000 1 2012 2012
Malignant tumor of colon
CUI: C0007102
Disease: Malignant tumor of colon
688 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.010 1.000 1 2015 2015
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
942 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.010 1.000 1 2006 2006
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.020 1.000 2 2011 2012