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: 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
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
dbSNP: rs869312893
rs869312893
STAT3
1.000 17 42329431 missense variant A/C snv
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.700 1.000 1 2015 2015
dbSNP: rs869312894
rs869312894
STAT3
1.000 17 42317219 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: rs9891119
rs9891119
STAT3
0.882 0.120 17 42355962 intron variant A/C snv 0.36
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.810 1.000 1 2013 2013
dbSNP: rs9891119
rs9891119
STAT3
0.882 0.120 17 42355962 intron variant A/C snv 0.36
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.800 1.000 1 2011 2011