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.
WHIM syndrome
CUI: C0472817
Disease: WHIM syndrome
7 0.827 0.280 2 136114915 stop gained G/C snv 0.720 1.000 2 2014 2015
Waldenstrom Macroglobulinemia
CUI: C0024419
Disease: Waldenstrom Macroglobulinemia
15 0.827 0.280 2 136114915 stop gained G/C snv 0.030 1.000 3 2014 2016
B-Cell Lymphomas
CUI: C0079731
Disease: B-Cell Lymphomas
42 0.827 0.280 2 136114915 stop gained G/C snv 0.010 1.000 1 2014 2014
IgM monoclonal gammopathy of uncertain significance
CUI: C0563312
Disease: IgM monoclonal gammopathy of uncertain significance
3 0.827 0.280 2 136114915 stop gained G/C snv 0.010 1.000 1 2016 2016
Lymphoproliferative Disorders
CUI: C0024314
Disease: Lymphoproliferative Disorders
14 0.827 0.280 2 136114915 stop gained G/C snv 0.010 1.000 1 2014 2014
Malignant lymphoma - lymphoplasmacytic
CUI: C0334633
Disease: Malignant lymphoma - lymphoplasmacytic
10 0.827 0.280 2 136114915 stop gained G/C snv 0.010 1.000 1 2014 2014
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.827 0.280 2 136114915 stop gained G/C snv 0.010 1.000 1 2016 2016
Monoclonal Gammapathies
CUI: C1136085
Disease: Monoclonal Gammapathies
2 0.827 0.280 2 136114915 stop gained G/C snv 0.010 1.000 1 2016 2016
Monoclonal Gammopathy of Undetermined Significance
CUI: C0026470
Disease: Monoclonal Gammopathy of Undetermined Significance
20 0.827 0.280 2 136114915 stop gained G/C snv 0.010 1.000 1 2016 2016
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.827 0.280 2 136114915 stop gained G/C snv 0.010 1.000 1 2016 2016
Tumor Progression
CUI: C0178874
Disease: Tumor Progression
72 0.827 0.280 2 136114915 stop gained G/C snv 0.010 1.000 1 2014 2014