rs113994135, STAT3

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.
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
14 0.925 0.120 17 42329643 missense variant G/A snv 0.700 1.000 6 2007 2014
STAT3 Gain of Function
CUI: C4288261
Disease: STAT3 Gain of Function
9 0.925 0.120 17 42329643 missense variant G/A snv 0.700 1.000 6 2007 2014
Job Syndrome
CUI: C3887645
Disease: Job Syndrome
12 0.925 0.120 17 42329643 missense variant G/A snv 0.010 1.000 1 2008 2008