rs121908698, CHEK2

N. diseases: 7
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.
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.851 0.200 22 28725242 splice donor variant C/A;T snv 4.0E-06; 1.3E-04 0.700 1.000 14 2003 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.851 0.200 22 28725242 splice donor variant C/A;T snv 4.0E-06; 1.3E-04 0.700 1.000 7 2003 2016
BREAST AND COLORECTAL CANCER, SUSCEPTIBILITY TO
CUI: C1858433
Disease: BREAST AND COLORECTAL CANCER, SUSCEPTIBILITY TO
7 0.851 0.200 22 28725242 splice donor variant C/A;T snv 4.0E-06; 1.3E-04 0.700 0
BREAST CANCER, SUSCEPTIBILITY TO
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
24 0.851 0.200 22 28725242 splice donor variant C/A;T snv 4.0E-06; 1.3E-04 0.700 0
Li-Fraumeni Syndrome 2
CUI: C1836482
Disease: Li-Fraumeni Syndrome 2
11 0.851 0.200 22 28725242 splice donor variant C/A;T snv 4.0E-06; 1.3E-04 0.700 0
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
1082 0.851 0.200 22 28725242 splice donor variant C/A;T snv 4.0E-06; 1.3E-04 0.700 0
Osteosarcoma
CUI: C0029463
Disease: Osteosarcoma
178 0.851 0.200 22 28725242 splice donor variant C/A;T snv 4.0E-06; 1.3E-04 0.700 0