rs137853011, CHEK2

N. diseases: 16
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.
Hereditary Breast and Ovarian Cancer Syndrome
2117 0.763 0.280 22 28695219 missense variant G/A snv 4.9E-04 2.6E-04 0.700 1.000 18 2005 2018
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
385 0.763 0.280 22 28695219 missense variant G/A snv 4.9E-04 2.6E-04 0.700 1.000 7 2005 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.763 0.280 22 28695219 missense variant G/A snv 4.9E-04 2.6E-04 0.700 1.000 6 2005 2017
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.763 0.280 22 28695219 missense variant G/A snv 4.9E-04 2.6E-04 0.700 1.000 4 2005 2012
BREAST AND COLORECTAL CANCER, SUSCEPTIBILITY TO
7 0.763 0.280 22 28695219 missense variant G/A snv 4.9E-04 2.6E-04 0.700 0
BREAST CANCER, SUSCEPTIBILITY TO
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
24 0.763 0.280 22 28695219 missense variant G/A snv 4.9E-04 2.6E-04 0.700 0
increased risk of pancreatic cancer
CUI: C1842408
Disease: increased risk of pancreatic cancer
6 0.763 0.280 22 28695219 missense variant G/A snv 4.9E-04 2.6E-04 0.700 0
Li-Fraumeni Syndrome 2
CUI: C1836482
Disease: Li-Fraumeni Syndrome 2
11 0.763 0.280 22 28695219 missense variant G/A snv 4.9E-04 2.6E-04 0.700 0
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
1082 0.763 0.280 22 28695219 missense variant G/A snv 4.9E-04 2.6E-04 0.700 0
Osteosarcoma
CUI: C0029463
Disease: Osteosarcoma
178 0.763 0.280 22 28695219 missense variant G/A snv 4.9E-04 2.6E-04 0.700 0
Aggressive Non-Hodgkin Lymphoma
CUI: C1332225
Disease: Aggressive Non-Hodgkin Lymphoma
1 0.763 0.280 22 28695219 missense variant G/A snv 4.9E-04 2.6E-04 0.010 1.000 1 2001 2001
Carcinoma, Ovarian Epithelial
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
327 0.763 0.280 22 28695219 missense variant G/A snv 4.9E-04 2.6E-04 0.010 1.000 1 2019 2019
Malignant neoplasm of ovary
CUI: C1140680
Disease: Malignant neoplasm of ovary
315 0.763 0.280 22 28695219 missense variant G/A snv 4.9E-04 2.6E-04 0.010 1.000 1 2019 2019
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.763 0.280 22 28695219 missense variant G/A snv 4.9E-04 2.6E-04 0.010 1.000 1 2007 2007
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
757 0.763 0.280 22 28695219 missense variant G/A snv 4.9E-04 2.6E-04 0.010 1.000 1 2019 2019
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.763 0.280 22 28695219 missense variant G/A snv 4.9E-04 2.6E-04 0.010 1.000 1 2007 2007