Source: BEFREE

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: rs769031989
rs769031989
STAT3
0.851 0.160 17 42322464 missense variant T/A snv 7.0E-06
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs1053005
rs1053005
STAT3
0.763 0.360 17 42313892 3 prime UTR variant T/C snv 0.25
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		0.010 1.000 1 2011 2011
dbSNP: rs113994136
rs113994136
STAT3
0.827 0.240 17 42329642 missense variant C/A;T snv
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		0.010 1.000 1 2011 2011
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: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		0.010 1.000 1 2011 2011
dbSNP: rs744166
rs744166
STAT3
0.689 0.560 17 42362183 intron variant A/G snv 0.48
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.010 1.000 1 2018 2018
dbSNP: rs744166
rs744166
STAT3
0.689 0.560 17 42362183 intron variant A/G snv 0.48
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic 		0.010 1.000 1 2013 2013
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: rs2291282
rs2291282
STAT3
0.882 0.120 17 42346547 intron variant T/C snv 1.2E-03 3.4E-04
CUI: C0178468
Disease: Autoimmune thyroid disease
Autoimmune thyroid disease 		0.010 1.000 1 2013 2013
dbSNP: rs1053005
rs1053005
STAT3
0.763 0.360 17 42313892 3 prime UTR variant T/C snv 0.25
CUI: C3840565
Disease: Autoimmune thyroid disease (AITD)
Autoimmune thyroid disease (AITD) 		0.010 1.000 1 2013 2013
dbSNP: rs17593222
rs17593222
STAT3
0.925 0.120 17 42360972 intron variant C/G snv 6.1E-02
CUI: C3840565
Disease: Autoimmune thyroid disease (AITD)
Autoimmune thyroid disease (AITD) 		0.010 1.000 1 2013 2013
dbSNP: rs1053023
rs1053023
STAT3
0.882 0.120 17 42313598 3 prime UTR variant T/A;C snv
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas 		0.010 1.000 1 2011 2011
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: rs744166
rs744166
STAT3
0.689 0.560 17 42362183 intron variant A/G snv 0.48
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.010 1.000 1 2013 2013
dbSNP: rs4796793
rs4796793
STAT3
0.716 0.320 17 42390192 upstream gene variant G/C snv 0.67
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs7211777
rs7211777
STAT3
0.882 0.120 17 42382057 intron variant G/A snv 0.52
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2007 2007
dbSNP: rs4796793
rs4796793
STAT3
0.716 0.320 17 42390192 upstream gene variant G/C snv 0.67
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2019 2019
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: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		0.010 1.000 1 2019 2019
dbSNP: rs4796793
rs4796793
STAT3
0.716 0.320 17 42390192 upstream gene variant G/C snv 0.67
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		0.010 1.000 1 2019 2019
dbSNP: rs4796793
rs4796793
STAT3
0.716 0.320 17 42390192 upstream gene variant G/C snv 0.67
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		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: rs744166
rs744166
STAT3
0.689 0.560 17 42362183 intron variant A/G snv 0.48
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 1.000 1 2014 2014
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: 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: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block 		0.010 1.000 1 2015 2015
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 7 2008 2016
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