rs17879961, CHEK2

N. diseases: 53
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.
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
385 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.020 1.000 2 2012 2016
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
327 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.020 0.500 2 2016 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.020 1.000 2 2004 2016
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
145 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.020 1.000 2 2004 2015
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
135 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.020 1.000 2 2004 2015
Adult Hepatocellular Carcinoma
CUI: C0279607
Disease: Adult Hepatocellular Carcinoma
14 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.010 1.000 1 2013 2013
Adult Hodgkin Lymphoma
CUI: C0220597
Disease: Adult Hodgkin Lymphoma
27 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.010 1.000 1 2011 2011
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
80 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.010 1.000 1 2019 2019
Carcinoma, Lobular
CUI: C0206692
Disease: Carcinoma, Lobular
1 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.010 1 2005 2005
Childhood Hepatocellular Carcinoma
CUI: C0279606
Disease: Childhood Hepatocellular Carcinoma
17 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.010 1.000 1 2013 2013
Childhood Hodgkin Lymphoma
CUI: C0220644
Disease: Childhood Hodgkin Lymphoma
29 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.010 1.000 1 2011 2011
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
275 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.010 1.000 1 2004 2004
Cystadenoma
CUI: C0010633
Disease: Cystadenoma
1 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.010 1.000 1 2006 2006
Differentiated Thyroid Gland Carcinoma
CUI: C1337013
Disease: Differentiated Thyroid Gland Carcinoma
80 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.010 1 2014 2014
Hereditary pancreatitis
CUI: C0238339
Disease: Hereditary pancreatitis
108 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.010 1.000 1 2003 2003
Hodgkin Disease
CUI: C0019829
Disease: Hodgkin Disease
148 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.010 1.000 1 2011 2011
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
942 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.010 1 2013 2013
Luminal A Breast Carcinoma
CUI: C3642345
Disease: Luminal A Breast Carcinoma
11 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.010 1.000 1 2012 2012
Malignant neoplasm of endometrium
CUI: C0007103
Disease: Malignant neoplasm of endometrium
197 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.010 1.000 1 2009 2009
Malignant neoplasm of gastrointestinal tract
CUI: C0685938
Disease: Malignant neoplasm of gastrointestinal tract
55 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.010 1.000 1 2008 2008
Malignant neoplasm of kidney
CUI: C0740457
Disease: Malignant neoplasm of kidney
22 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.010 1.000 1 2004 2004
Malignant neoplasm of liver
CUI: C0345904
Disease: Malignant neoplasm of liver
88 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.010 1.000 1 2013 2013
Malignant neoplasm of pancreas
CUI: C0346647
Disease: Malignant neoplasm of pancreas
277 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.010 1.000 1 2010 2010
Mantle cell lymphoma
CUI: C4721414
Disease: Mantle cell lymphoma
19 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.010 1.000 1 2002 2002
Pancreatic carcinoma
CUI: C0235974
Disease: Pancreatic carcinoma
322 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.010 1.000 1 2010 2010