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.
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
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
CANCER OF MULTIPLE TYPES, SUSCEPTIBILITY TO
CUI: C1858439
Disease: 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
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
BREAST AND COLORECTAL CANCER, SUSCEPTIBILITY TO
CUI: C1858433
Disease: 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
COLORECTAL CANCER, SUSCEPTIBILITY TO
CUI: C1858438
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO
8 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.700 0
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
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
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
Mantle cell lymphoma
CUI: C4721414
Disease: Mantle cell lymphoma
19 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.010 1.000 1 2002 2002
Renal carcinoma
CUI: C1378703
Disease: Renal carcinoma
21 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.010 1.000 1 2004 2004
Malignant neoplasm of kidney
CUI: C0740457
Disease: Malignant neoplasm of kidney
22 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.010 1.000 1 2004 2004
Pancreatic Ductal Adenocarcinoma
CUI: C1335302
Disease: Pancreatic Ductal Adenocarcinoma
22 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.010 1.000 1 2019 2019
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
Prostate cancer, familial
CUI: C2931456
Disease: Prostate cancer, familial
25 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.010 1.000 1 2004 2004
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
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
Malignant neoplasm of gastrointestinal tract
CUI: C0685938
Disease: Malignant neoplasm of gastrointestinal tract
55 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.010 1.000 1 2008 2008
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
CUI: C1832661
Disease: 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
Differentiated Thyroid Gland Carcinoma
CUI: C1337013
Disease: 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
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
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
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
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