Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs869312890
rs869312890
STAT3
0.925 0.120 17 42339328 missense variant G/A snv
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.700 1.000 1 2015 2015
dbSNP: rs869312890
rs869312890
STAT3
0.925 0.120 17 42339328 missense variant G/A snv
CUI: C4288261
Disease: STAT3 Gain of Function
STAT3 Gain of Function 		0.700 1.000 1 2015 2015
dbSNP: rs869312890
rs869312890
STAT3
0.925 0.120 17 42339328 missense variant G/A snv
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.700 1.000 1 2015 2015