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: rs113994139
rs113994139
STAT3
0.925 0.120 17 42322474 missense variant C/T snv
CUI: C3887645
Disease: Job Syndrome
Job Syndrome 		0.700 1.000 9 2007 2018
dbSNP: rs113994139
rs113994139
STAT3
0.925 0.120 17 42322474 missense variant C/T snv
CUI: C4288261
Disease: STAT3 Gain of Function
STAT3 Gain of Function 		0.700 1.000 5 2007 2016
dbSNP: rs113994139
rs113994139
STAT3
0.925 0.120 17 42322474 missense variant C/T snv
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.700 1.000 5 2007 2016