rs17879961, CHEK2

N. diseases: 12
Source: CLINVAR ×
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
37 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.900 0.895 0 2003 2017
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
802 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.800 0.929 14 2001 2016
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
28 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.710 1.000 0 2009 2009
Malignant neoplasm of ovary
CUI: C1140680
Disease: Malignant neoplasm of ovary
20 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.710 1.000 0 2006 2006
Malignant tumor of colon
CUI: C0007102
Disease: Malignant tumor of colon
37 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.710 1.000 0 2004 2004
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6385 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.700 1.000 32 2001 2016
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
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
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
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
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