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
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
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: rs9891119
rs9891119
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: rs193922721
rs193922721
0.925 0.120 17 42322413 missense variant T/C snv
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
0.800 1.000 7 2007 2016
dbSNP: rs397514766
rs397514766
1.000 0.120 17 42329621 missense variant G/A snv
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
0.800 1.000 4 2007 2016
dbSNP: rs12942547
rs12942547
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: rs869312892
rs869312892
0.925 0.120 17 42316899 missense variant G/A snv
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
0.800 1.000 3 2014 2017
dbSNP: rs587777648
rs587777648
0.925 0.120 17 42329612 missense variant T/C snv
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
0.800 1.000 2 2014 2017
dbSNP: rs587777649
rs587777649
1.000 17 42322445 missense variant G/A;C snv 4.0E-06
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
0.800 1.000 2 2014 2017
dbSNP: rs587777650
rs587777650
1.000 17 42322409 missense variant C/G snv
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
0.800 1.000 2 2014 2017
dbSNP: rs2293152
rs2293152
0.763 0.480 17 42329511 intron variant G/A;C;T snv 2.8E-05; 0.59; 1.6E-05
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.800 1.000 1 2011 2011
dbSNP: rs9891119
rs9891119
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
dbSNP: rs1064794957
rs1064794957
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: rs113994139
rs113994139
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: rs113994135
rs113994135
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
0.925 0.120 17 42329643 missense variant G/A snv
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
0.700 1.000 6 2007 2014
dbSNP: rs113994139
rs113994139
0.925 0.120 17 42322474 missense variant C/T snv
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
0.700 1.000 5 2007 2016
dbSNP: rs113994139
rs113994139
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: rs886039434
rs886039434
0.925 0.120 17 42322404 missense variant A/G snv
CUI: C4288261
Disease: STAT3 Gain of Function
STAT3 Gain of Function
0.700 1.000 4 2010 2018
dbSNP: rs886039434
rs886039434
0.925 0.120 17 42322404 missense variant A/G snv
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
0.700 1.000 4 2010 2018
dbSNP: rs12942547
rs12942547
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
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: rs193922721
rs193922721
0.925 0.120 17 42322413 missense variant T/C snv
CUI: C4288261
Disease: STAT3 Gain of Function
STAT3 Gain of Function
0.700 1.000 3 2009 2013
dbSNP: rs1555563871
rs1555563871
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: rs1567713850
rs1567713850
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