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.
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
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
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
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.090 1.000 9 2006 2013
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.090 1.000 9 2006 2013
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
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
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
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
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
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
Squamous cell carcinoma
CUI: C0007137
Disease: Squamous cell carcinoma
257 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.700 1.000 1 2014 2014
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
204 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.030 1.000 3 2011 2015
Malignant neoplasm of thyroid
CUI: C0007115
Disease: Malignant neoplasm of thyroid
103 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.020 1.000 2 2004 2015
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
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.700 1.000 32 2001 2016
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
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
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
1142 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.730 1.000 4 2008 2016
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
981 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.030 1.000 3 2008 2016
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
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
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
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