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
403 0.923 0.250 11 108245027 splice donor variant G/A,C,T snp 1.6E-05 3.2E-05; 3.2E-05 0.700 4 2003 2017
Breast Cancer, Familial
CUI: C0346153
Disease: Breast Cancer, Familial
705 0.923 0.250 11 108245027 splice donor variant G/A,C,T snp 1.6E-05 3.2E-05; 3.2E-05 0.700 1 2015 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
4866 0.923 0.250 11 108245027 splice donor variant G/A,C,T snp 1.6E-05 3.2E-05; 3.2E-05 0.700 1 2003 2003