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.
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
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
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
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
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
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
1082 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.030 1.000 3 2004 2008
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
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
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
1168 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.030 1.000 3 2004 2008
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
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
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