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: rs1053004
rs1053004
STAT3
0.776 0.280 17 42314074 3 prime UTR variant G/A snv 0.48
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2016 2016
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: 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: rs113994135
rs113994135
STAT3
0.925 0.120 17 42329643 missense variant G/A snv
CUI: C4288261
Disease: STAT3 Gain of Function
STAT3 Gain of Function 		0.700 1.000 6 2007 2014
dbSNP: rs113994135
rs113994135
STAT3
0.925 0.120 17 42329643 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 6 2007 2014
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: 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
dbSNP: rs113994139
rs113994139
STAT3
0.925 0.120 17 42322474 missense variant C/T snv
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		0.700 1.000 5 2007 2016
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: 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: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.800 1.000 3 2012 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: C0033860
Disease: Psoriasis
Psoriasis 		0.700 1.000 1 2016 2016
dbSNP: rs12942547
rs12942547
STAT3
0.807 0.200 17 42375526 intron variant A/G;T snv
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.700 1.000 1 2016 2016
dbSNP: rs12942547
rs12942547
STAT3
0.807 0.200 17 42375526 intron variant A/G;T snv
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		0.700 1.000 1 2016 2016
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: 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: 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: 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: 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: rs17881320
rs17881320
STAT3
1.000 0.120 17 42333221 intron variant G/A;T snv 6.0E-02
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		0.700 1.000 1 2015 2015