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: rs1131691476
rs1131691476
STAT3
1.000 0.120 17 42317209 missense variant A/G snv
CUI: C4288261
Disease: STAT3 Gain of Function
STAT3 Gain of Function 		0.700 0
dbSNP: rs1131691476
rs1131691476
STAT3
1.000 0.120 17 42317209 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 0
dbSNP: rs113994136
rs113994136
STAT3
0.827 0.240 17 42329642 missense variant C/A;T snv
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs113994137
rs113994137
STAT3
1.000 0.120 17 42329423 missense variant C/T snv 7.0E-06
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs113994138
rs113994138
STAT3
1.000 0.120 17 42325038 inframe deletion CAC/- delins
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs1555563717
rs1555563717
STAT3
1.000 0.120 17 42322407 missense variant A/T snv
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs1555566820
rs1555566820
STAT3
1.000 0.120 17 42333736 missense variant A/T snv
CUI: C4288261
Disease: STAT3 Gain of Function
STAT3 Gain of Function 		0.700 0
dbSNP: rs1555566820
rs1555566820
STAT3
1.000 0.120 17 42333736 missense variant A/T snv
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.700 0
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: 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: 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: rs7211777
rs7211777
STAT3
0.882 0.120 17 42382057 intron variant G/A snv 0.52
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2007 2007
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: rs113994135
rs113994135
STAT3
0.925 0.120 17 42329643 missense variant G/A snv
CUI: C3887645
Disease: Job Syndrome
Job Syndrome 		0.010 1.000 1 2008 2008
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: rs9891119
rs9891119
STAT3
0.882 0.120 17 42355962 intron variant A/C snv 0.36
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.010 1.000 1 2008 2008
dbSNP: rs1053023
rs1053023
STAT3
0.882 0.120 17 42313598 3 prime UTR variant T/A;C snv
CUI: C4552766
Disease: Miscarriage
Miscarriage 		0.010 1.000 1 2010 2010
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: 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: 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: rs113994136
rs113994136
STAT3
0.827 0.240 17 42329642 missense variant C/A;T snv
CUI: C1290884
Disease: Inflammatory disorder
Inflammatory disorder 		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