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: rs1064794957
rs1064794957
STAT3
17 42317182 missense variant G/A;C snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 11 2007 2018
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: 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: 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: 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: rs17886724
rs17886724
STAT3
0.925 0.040 17 42344145 intron variant A/G snv 0.35
CUI: C0023418
Disease: leukemia
leukemia 		0.010 1.000 1 2012 2012
dbSNP: rs17886724
rs17886724
STAT3
0.925 0.040 17 42344145 intron variant A/G snv 0.35
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.010 1.000 1 2012 2012
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: rs6503695
rs6503695
STAT3
0.925 0.040 17 42347515 intron variant T/C snv 0.33
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.010 1.000 1 2008 2008
dbSNP: rs8074524
rs8074524
STAT3
0.925 0.040 17 42317580 intron variant C/T snv 0.25
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.010 1.000 1 2016 2016
dbSNP: rs8074524
rs8074524
STAT3
0.925 0.040 17 42317580 intron variant C/T snv 0.25
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.010 1.000 1 2016 2016
dbSNP: rs957970
rs957970
STAT3
1.000 0.040 17 42367872 intron variant A/G snv 0.36
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.010 1.000 1 2014 2014
dbSNP: rs957970
rs957970
STAT3
1.000 0.040 17 42367872 intron variant A/G snv 0.36
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.010 1.000 1 2016 2016
dbSNP: rs111904020
rs111904020
STAT3
1.000 0.080 17 42314141 3 prime UTR variant A/C snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs12949918
rs12949918
STAT3
1.000 0.080 17 42374255 intron variant T/C snv 0.39
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2011 2011
dbSNP: rs17405722
rs17405722
STAT3
1.000 0.080 17 42390483 upstream gene variant G/A;T snv 6.1E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 1.000 1 2018 2018
dbSNP: rs3869550
rs3869550
STAT3
1.000 0.080 17 42340869 intron variant T/C snv 0.48
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2011 2011
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: rs9912773
rs9912773
STAT3
1.000 0.080 17 42358516 intron variant C/A;G snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2011 2011
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