rs536907995, CHEK2

N. diseases: 5
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 0.882 0.120 22 28734664 stop gained G/A snv 1.4E-04 2.8E-05 0.720 1.000 4 2014 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.882 0.120 22 28734664 stop gained G/A snv 1.4E-04 2.8E-05 0.700 0
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.882 0.120 22 28734664 stop gained G/A snv 1.4E-04 2.8E-05 0.020 1.000 2 2016 2016
Cardiomyopathy, Familial Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
243 0.882 0.120 22 28734664 stop gained G/A snv 1.4E-04 2.8E-05 0.010 1.000 1 2016 2016
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.882 0.120 22 28734664 stop gained G/A snv 1.4E-04 2.8E-05 0.010 1.000 1 2016 2016