rs55861249, ATM

N. diseases: 3
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.
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
698 0.925 0.280 11 108227806 stop gained C/A;T snv 7.2E-05; 2.0E-05 0.700 1.000 7 1996 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.925 0.280 11 108227806 stop gained C/A;T snv 7.2E-05; 2.0E-05 0.700 1.000 5 1996 2013
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.925 0.280 11 108227806 stop gained C/A;T snv 7.2E-05; 2.0E-05 0.700 0