rs869312892, 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.
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
142 0.925 0.120 17 42316899 missense variant G/A snv 0.800 1.000 3 2014 2017
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 42316899 missense variant G/A snv 0.700 1.000 2 2014 2015
STAT3 Gain of Function
CUI: C4288261
Disease: STAT3 Gain of Function
9 0.925 0.120 17 42316899 missense variant G/A snv 0.700 1.000 2 2014 2015