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.
X-Linked Lymphoproliferative Disorder
CUI: C0549463
Disease: X-Linked Lymphoproliferative Disorder
10 0.925 0.080 X 124365786 stop gained C/T snv 0.710 1.000 18 1998 2020
Inflammatory Bowel Diseases
CUI: C0021390
Disease: Inflammatory Bowel Diseases
605 0.925 0.080 X 124365786 stop gained C/T snv 0.010 1.000 1 2020 2020
Lymphohistiocytosis, Hemophagocytic
CUI: C0024291
Disease: Lymphohistiocytosis, Hemophagocytic
13 0.925 0.080 X 124365786 stop gained C/T snv 0.010 1.000 1 2020 2020