rs748840480, 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 108245027 splice donor variant G/A;C;T snv 1.6E-05 0.700 1.000 7 2003 2018
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.925 0.280 11 108245027 splice donor variant G/A;C;T snv 1.6E-05 0.700 1.000 4 2003 2017
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.925 0.280 11 108245027 splice donor variant G/A;C;T snv 1.6E-05 0.700 0