Source: CURATED

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: rs12942547
rs12942547
STAT3
0.807 0.200 17 42375526 intron variant A/G;T snv
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.700 1.000 3 2015 2017
dbSNP: rs193922721
rs193922721
STAT3
0.925 0.120 17 42322413 missense variant T/C snv
CUI: C4288261
Disease: STAT3 Gain of Function
STAT3 Gain of Function 		0.700 1.000 3 2009 2013
dbSNP: rs869312892
rs869312892
STAT3
0.925 0.120 17 42316899 missense variant G/A snv
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.800 1.000 3 2014 2017
dbSNP: rs1555563871
rs1555563871
STAT3
1.000 0.120 17 42323039 missense variant C/T snv
CUI: C3887645
Disease: Job Syndrome
Job Syndrome 		0.700 1.000 2 2013 2018
dbSNP: rs1567713850
rs1567713850
STAT3
1.000 0.120 17 42329457 missense variant T/A snv
CUI: C3887645
Disease: Job Syndrome
Job Syndrome 		0.700 1.000 2 2008 2012
dbSNP: rs193922716
rs193922716
STAT3
0.925 0.120 17 42333719 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 2 2008 2012
dbSNP: rs193922716
rs193922716
STAT3
0.925 0.120 17 42333719 missense variant G/A snv
CUI: C4288261
Disease: STAT3 Gain of Function
STAT3 Gain of Function 		0.700 1.000 2 2008 2012
dbSNP: rs587777648
rs587777648
STAT3
0.925 0.120 17 42329612 missense variant T/C snv
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.800 1.000 2 2014 2017
dbSNP: rs587777649
rs587777649
STAT3
1.000 17 42322445 missense variant G/A;C snv 4.0E-06
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.800 1.000 2 2014 2017
dbSNP: rs587777650
rs587777650
STAT3
1.000 17 42322409 missense variant C/G snv
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.800 1.000 2 2014 2017
dbSNP: rs869312892
rs869312892
STAT3
0.925 0.120 17 42316899 missense variant G/A snv
CUI: C4288261
Disease: STAT3 Gain of Function
STAT3 Gain of Function 		0.700 1.000 2 2014 2015
dbSNP: rs869312892
rs869312892
STAT3
0.925 0.120 17 42316899 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 2 2014 2015
dbSNP: rs886039434
rs886039434
STAT3
0.925 0.120 17 42322404 missense variant A/G snv
CUI: C3887645
Disease: Job Syndrome
Job Syndrome 		0.700 1.000 2 2010 2016
dbSNP: rs12942547
rs12942547
STAT3
0.807 0.200 17 42375526 intron variant A/G;T snv
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.700 1.000 1 2016 2016
dbSNP: rs12942547
rs12942547
STAT3
0.807 0.200 17 42375526 intron variant A/G;T snv
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 1.000 1 2016 2016
dbSNP: rs12942547
rs12942547
STAT3
0.807 0.200 17 42375526 intron variant A/G;T snv
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		0.700 1.000 1 2016 2016
dbSNP: rs193922717
rs193922717
STAT3
0.925 0.120 17 42329448 missense variant C/T snv
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.700 1.000 1 2015 2015
dbSNP: rs2293152
rs2293152
STAT3
0.763 0.480 17 42329511 intron variant G/A;C;T snv 2.8E-05; 0.59; 1.6E-05
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.800 1.000 1 2011 2011
dbSNP: rs869312887
rs869312887
STAT3
1.000 17 42333690 missense variant C/G snv
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.700 1.000 1 2015 2015
dbSNP: rs869312888
rs869312888
STAT3
1.000 17 42329430 missense variant C/T snv
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.700 1.000 1 2015 2015
dbSNP: rs869312889
rs869312889
STAT3
1.000 17 42322395 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
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: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		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: rs869312891
rs869312891
STAT3
1.000 17 42331524 missense variant C/A snv
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.700 1.000 1 2015 2015