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 0.851 0.200 2 136114928 stop gained G/A snv 0.750 1.000 9 2003 2016
MYELOKATHEXIS, ISOLATED
CUI: C1834176
Disease: MYELOKATHEXIS, ISOLATED
1 0.851 0.200 2 136114928 stop gained G/A snv 0.700 0
Leukopenia
CUI: C0023530
Disease: Leukopenia
153 0.851 0.200 2 136114928 stop gained G/A snv 0.010 1.000 1 2009 2009
Neutropenia
CUI: C0027947
Disease: Neutropenia
97 0.851 0.200 2 136114928 stop gained G/A snv 0.010 1.000 1 2009 2009