rs74315322, HAX1

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.
Severe congenital neutropenia
CUI: C1853118
Disease: Severe congenital neutropenia
26 1.000 0.040 1 154275165 stop gained C/T snv 3.6E-05 0.700 0
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 1.000 0.040 1 154275165 stop gained C/T snv 3.6E-05 0.010 1.000 1 2008 2008
nervous system disorder
CUI: C0027765
Disease: nervous system disorder
39 1.000 0.040 1 154275165 stop gained C/T snv 3.6E-05 0.010 1.000 1 2008 2008