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-Telangiectasisa-Like Disorder 1
CUI: C4012790
Disease: Ataxia-Telangiectasisa-Like Disorder 1
15 0.827 0.320 11 94467821 stop gained G/A;C;T snv 5.2E-05; 4.0E-06; 7.2E-05 0.700 1.000 3 2014 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.827 0.320 11 94467821 stop gained G/A;C;T snv 5.2E-05; 4.0E-06; 7.2E-05 0.700 1.000 3 2014 2016
ATAXIA-TELANGIECTASIA-LIKE DISORDER
CUI: C1858391
Disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER
13 0.827 0.320 11 94467821 stop gained G/A;C;T snv 5.2E-05; 4.0E-06; 7.2E-05 0.700 1.000 1 2014 2014
Breast Cancer, Familial
CUI: C0346153
Disease: Breast Cancer, Familial
91 0.827 0.320 11 94467821 stop gained G/A;C;T snv 5.2E-05; 4.0E-06; 7.2E-05 0.010 1.000 1 2017 2017
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
326 0.827 0.320 11 94467821 stop gained G/A;C;T snv 5.2E-05; 4.0E-06; 7.2E-05 0.010 1.000 1 2017 2017
Malignant neoplasm of endometrium
CUI: C0007103
Disease: Malignant neoplasm of endometrium
197 0.827 0.320 11 94467821 stop gained G/A;C;T snv 5.2E-05; 4.0E-06; 7.2E-05 0.010 1.000 1 2017 2017