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.
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
80 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.010 1.000 1 2019 2019
BREAST AND COLORECTAL CANCER, SUSCEPTIBILITY TO
7 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.700 0
BREAST CANCER, SUSCEPTIBILITY TO
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
24 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.700 0
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.900 0.895 19 2003 2017
CANCER OF MULTIPLE TYPES, SUSCEPTIBILITY TO
1 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.700 0
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
1204 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.730 1.000 4 2008 2016
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
COLORECTAL CANCER, SUSCEPTIBILITY TO
8 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.700 0
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.090 0.889 9 2006 2013
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
80 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.010 1 2014 2014
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
326 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.710 1.000 1 2009 2009
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.030 1.000 3 2006 2019
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
Li-Fraumeni Syndrome 2
CUI: C1836482
Disease: Li-Fraumeni Syndrome 2
11 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.700 0
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 breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.800 0.929 28 2001 2016
Malignant neoplasm of colon and/or rectum
502 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.070 1.000 7 2006 2013