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.
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
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
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
Malignant neoplasm of ovary
CUI: C1140680
Disease: Malignant neoplasm of ovary
315 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.710 1.000 1 2006 2006
Malignant tumor of colon
CUI: C0007102
Disease: Malignant tumor of colon
688 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.710 1.000 1 2004 2004
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
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
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
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
COLORECTAL CANCER, SUSCEPTIBILITY TO
8 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.700 0
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
PROSTATE CANCER, SUSCEPTIBILITY TO
CUI: C3469524
Disease: PROSTATE CANCER, SUSCEPTIBILITY TO
6 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
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
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