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: 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: rs193922716
rs193922716
STAT3
0.925 0.120 17 42333719 missense variant G/A snv
CUI: C3887645
Disease: Job Syndrome
Job Syndrome 		0.700 0
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: rs193922717
rs193922717
STAT3
0.925 0.120 17 42329448 missense variant C/T snv
CUI: C3887645
Disease: Job Syndrome
Job Syndrome 		0.700 0
dbSNP: rs193922719
rs193922719
STAT3
1.000 0.120 17 42323120 missense variant T/A snv
CUI: C3887645
Disease: Job Syndrome
Job Syndrome 		0.700 0
dbSNP: rs193922720
rs193922720
STAT3
1.000 0.120 17 42323112 missense variant C/T snv
CUI: C3887645
Disease: Job Syndrome
Job Syndrome 		0.700 0
dbSNP: rs193922721
rs193922721
STAT3
0.925 0.120 17 42322413 missense variant T/C snv
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.800 1.000 7 2007 2016
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: rs193922721
rs193922721
STAT3
0.925 0.120 17 42322413 missense variant T/C snv
CUI: C3887645
Disease: Job Syndrome
Job Syndrome 		0.700 0
dbSNP: rs193922722
rs193922722
STAT3
1.000 0.120 17 42317192 missense variant A/G snv
CUI: C3887645
Disease: Job Syndrome
Job Syndrome 		0.700 0
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: rs34846688
rs34846688
STAT3
17 42343456 intron variant TTTTTTTTTTTT/-;T;TT;TTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT delins 0.30
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2019 2019
dbSNP: rs397514766
rs397514766
STAT3
1.000 0.120 17 42329621 missense variant G/A snv
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.800 1.000 4 2007 2016
dbSNP: rs4796791
rs4796791
STAT3
1.000 0.080 17 42378745 intron variant T/C snv 0.49
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.700 1.000 1 2013 2013
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: rs6503695
rs6503695
STAT3
0.925 0.040 17 42347515 intron variant T/C snv 0.33
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.700 1.000 1 2015 2015
dbSNP: rs744166
rs744166
STAT3
0.689 0.560 17 42362183 intron variant A/G snv 0.48
CUI: C0004096
Disease: Asthma
Asthma 		0.700 1.000 1 2011 2011
dbSNP: rs744166
rs744166
STAT3
0.689 0.560 17 42362183 intron variant A/G snv 0.48
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.870 1.000 1 2008 2016
dbSNP: rs744166
rs744166
STAT3
0.689 0.560 17 42362183 intron variant A/G snv 0.48
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.700 1.000 1 2015 2015
dbSNP: rs744166
rs744166
STAT3
0.689 0.560 17 42362183 intron variant A/G snv 0.48
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.820 1.000 1 2010 2012
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