GSDMA, gasdermin A, 284110

N. diseases: 14; N. variants: 13
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs3859192
rs3859192
0.925 0.080 17 39972395 intron variant C/T snv 0.42
CUI: C0004096
Disease: Asthma
Asthma
Respiratory Tract Diseases; Immune System Diseases 0.820 1.000 4 2010 2016
dbSNP: rs7212938
rs7212938
0.925 0.120 17 39966427 missense variant G/A;C;T snv 4.1E-04; 4.2E-06; 0.52
CUI: C0004096
Disease: Asthma
Asthma
Respiratory Tract Diseases; Immune System Diseases 0.820 0.750 4 2011 2015
dbSNP: rs3894194
rs3894194
0.882 0.120 17 39965740 missense variant G/A snv 0.46 0.41
CUI: C0004096
Disease: Asthma
Asthma
Respiratory Tract Diseases; Immune System Diseases 0.810 1.000 5 2010 2014
dbSNP: rs3859192
rs3859192
0.925 0.080 17 39972395 intron variant C/T snv 0.42
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
0.800 1.000 2 2012 2019
dbSNP: rs3894194
rs3894194
0.882 0.120 17 39965740 missense variant G/A snv 0.46 0.41
CUI: C0264408
Disease: Childhood asthma
Childhood asthma
Respiratory Tract Diseases; Immune System Diseases 0.800 1.000 2 2007 2014
dbSNP: rs17609240
rs17609240
17 39954436 intron variant T/A;G snv
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
0.800 1.000 1 2009 2009
dbSNP: rs3894194
rs3894194
0.882 0.120 17 39965740 missense variant G/A snv 0.46 0.41
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
Skin and Connective Tissue Diseases 0.710 1.000 2 2017 2018
dbSNP: rs7219080
rs7219080
1.000 0.080 17 39958263 intron variant A/C snv 0.65
CUI: C0004096
Disease: Asthma
Asthma
Respiratory Tract Diseases; Immune System Diseases 0.710 1.000 2 2010 2016
dbSNP: rs1007654
rs1007654
1.000 0.080 17 39955101 intron variant A/G snv 0.69
CUI: C0004096
Disease: Asthma
Asthma
Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2010 2010
dbSNP: rs2313640
rs2313640
1.000 0.080 17 39955592 intron variant C/T snv 0.69
CUI: C0264408
Disease: Childhood asthma
Childhood asthma
Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs3859192
rs3859192
0.925 0.080 17 39972395 intron variant C/T snv 0.42
CUI: C0264408
Disease: Childhood asthma
Childhood asthma
Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs3902025
rs3902025
0.925 0.080 17 39963001 intron variant G/T snv 0.56
CUI: C0264408
Disease: Childhood asthma
Childhood asthma
Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs3902025
rs3902025
0.925 0.080 17 39963001 intron variant G/T snv 0.56
CUI: C0004096
Disease: Asthma
Asthma
Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2010 2010
dbSNP: rs4580194
rs4580194
1.000 0.040 17 39970224 intron variant A/G snv 0.41
CUI: C0013595
Disease: Eczema
Eczema
Skin and Connective Tissue Diseases 0.700 1.000 1 2019 2019
dbSNP: rs4580194
rs4580194
1.000 0.040 17 39970224 intron variant A/G snv 0.41
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
0.700 1.000 1 2019 2019
dbSNP: rs62066853
rs62066853
17 39974239 intron variant T/C snv 0.23 0.19
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
0.700 1.000 1 2019 2019
dbSNP: rs6503526
rs6503526
0.925 0.080 17 39958345 intron variant C/T snv 0.41
CUI: C0264408
Disease: Childhood asthma
Childhood asthma
Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs6503526
rs6503526
0.925 0.080 17 39958345 intron variant C/T snv 0.41
CUI: C0004096
Disease: Asthma
Asthma
Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs7212938
rs7212938
0.925 0.120 17 39966427 missense variant G/A;C;T snv 4.1E-04; 4.2E-06; 0.52
CUI: C0018621
Disease: Hay fever
Hay fever
Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2014 2014
dbSNP: rs7218742
rs7218742
1.000 0.080 17 39958108 intron variant A/G snv 0.70
CUI: C0264408
Disease: Childhood asthma
Childhood asthma
Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs8076474
rs8076474
1.000 0.080 17 39954981 intron variant G/C snv 0.69
CUI: C0264408
Disease: Childhood asthma
Childhood asthma
Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2007 2007