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: C4288261
Disease: STAT3 Gain of Function
STAT3 Gain of Function 		0.700 1.000 5 2007 2016
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: rs886039434
rs886039434
STAT3
0.925 0.120 17 42322404 missense variant A/G snv
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.700 1.000 4 2010 2018
dbSNP: rs886039434
rs886039434
STAT3
0.925 0.120 17 42322404 missense variant A/G snv
CUI: C4288261
Disease: STAT3 Gain of Function
STAT3 Gain of Function 		0.700 1.000 4 2010 2018
dbSNP: rs12942547
rs12942547
STAT3
0.807 0.200 17 42375526 intron variant A/G;T snv
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.700 1.000 3 2015 2017
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: rs12942547
rs12942547
STAT3
0.807 0.200 17 42375526 intron variant A/G;T snv
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.800 1.000 3 2012 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: rs744166
rs744166
STAT3
0.689 0.560 17 42362183 intron variant A/G snv 0.48
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.030 1.000 3 2012 2014
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: rs1053004
rs1053004
STAT3
0.776 0.280 17 42314074 3 prime UTR variant G/A snv 0.48
CUI: C0524909
Disease: Hepatitis B, Chronic
Hepatitis B, Chronic 		0.020 1.000 2 2015 2017
dbSNP: rs1053004
rs1053004
STAT3
0.776 0.280 17 42314074 3 prime UTR variant G/A snv 0.48
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block 		0.020 1.000 2 2015 2017
dbSNP: rs113994136
rs113994136
STAT3
0.827 0.240 17 42329642 missense variant C/A;T snv
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.020 1.000 2 2011 2016
dbSNP: rs113994136
rs113994136
STAT3
0.827 0.240 17 42329642 missense variant C/A;T snv
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.020 1.000 2 2011 2011
dbSNP: rs113994136
rs113994136
STAT3
0.827 0.240 17 42329642 missense variant C/A;T snv
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.020 1.000 2 2011 2013
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: 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: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.020 1.000 2 2012 2014
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: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.020 1.000 2 2014 2016
dbSNP: rs4796793
rs4796793
STAT3
0.716 0.320 17 42390192 upstream gene variant G/C snv 0.67
CUI: C0278678
Disease: Metastatic Renal Cell Cancer
Metastatic Renal Cell Cancer 		0.020 1.000 2 2016 2016
dbSNP: rs4796793
rs4796793
STAT3
0.716 0.320 17 42390192 upstream gene variant G/C snv 0.67
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 1.000 2 2016 2016
dbSNP: rs4796793
rs4796793
STAT3
0.716 0.320 17 42390192 upstream gene variant G/C snv 0.67
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.020 1.000 2 2014 2016
dbSNP: rs4796793
rs4796793
STAT3
0.716 0.320 17 42390192 upstream gene variant G/C snv 0.67
CUI: C4721698
Disease: Metastatic Renal Cell Carcinoma
Metastatic Renal Cell Carcinoma 		0.020 1.000 2 2016 2016