ADAM33, ADAM metallopeptidase domain 33, 80332

N. diseases: 49; N. variants: 22
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: rs1169229302
rs1169229302 		1.000 0.080 20 3673650 missense variant G/A snv
CUI: C1321872
Disease: Stage IV Skin Melanoma
Stage IV Skin Melanoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs528557
rs528557 		0.827 0.120 20 3671095 synonymous variant C/A;G snv 4.7E-06; 0.29
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.060 1.000 6 2008 2019
dbSNP: rs2280090
rs2280090 		0.882 0.120 20 3669558 missense variant G/A snv 0.13 0.14
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.030 1.000 3 2009 2019
dbSNP: rs2280091
rs2280091 		0.882 0.080 20 3669587 missense variant A/G snv 0.13 0.14
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.030 1.000 3 2006 2019
dbSNP: rs2787094
rs2787094 		0.851 0.160 20 3668514 3 prime UTR variant C/G snv 0.71
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.020 1.000 2 2013 2015
dbSNP: rs44707
rs44707 		0.925 0.080 20 3670579 non coding transcript exon variant G/C;T snv
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.020 1.000 2 2008 2013
dbSNP: rs511898
rs511898 		0.925 0.080 20 3674438 3 prime UTR variant C/T snv 0.47
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.020 1.000 2 2009 2018
dbSNP: rs528557
rs528557 		0.827 0.120 20 3671095 synonymous variant C/A;G snv 4.7E-06; 0.29
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		Respiratory Tract Diseases; Immune System Diseases 0.020 0.500 2 2015 2017
dbSNP: rs678881
rs678881 		0.925 0.080 20 3669156 intron variant G/A;C snv
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.020 1.000 2 2013 2019
dbSNP: rs1259512299
rs1259512299 		1.000 0.080 20 3682004 start lost T/C snv 7.0E-06
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1259560536
rs1259560536 		1.000 0.040 20 3671756 missense variant T/C snv 7.0E-06
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs138340389
rs138340389 		1.000 0.040 20 3679562 missense variant G/A;T snv 3.4E-05
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 1.000 1 2010 2010
dbSNP: rs138879335
rs138879335 		1.000 0.040 20 3677086 missense variant G/C snv 4.0E-06 2.1E-05
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 1.000 1 2010 2010
dbSNP: rs2280089
rs2280089 		0.925 0.080 20 3669480 non coding transcript exon variant G/A snv 0.13
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2280089
rs2280089 		0.925 0.080 20 3669480 non coding transcript exon variant G/A snv 0.13
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2280090
rs2280090 		0.882 0.120 20 3669558 missense variant G/A snv 0.13 0.14
CUI: C0085129
Disease: Bronchial Hyperreactivity
Bronchial Hyperreactivity 		Respiratory Tract Diseases 0.010 1.000 1 2009 2009
dbSNP: rs2280090
rs2280090 		0.882 0.120 20 3669558 missense variant G/A snv 0.13 0.14
CUI: C0043144
Disease: Wheezing
Wheezing 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2016 2016
dbSNP: rs2280090
rs2280090 		0.882 0.120 20 3669558 missense variant G/A snv 0.13 0.14
CUI: C1260881
Disease: Allergic bronchitis
Allergic bronchitis 		Infections; Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2280091
rs2280091 		0.882 0.080 20 3669587 missense variant A/G snv 0.13 0.14
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2280091
rs2280091 		0.882 0.080 20 3669587 missense variant A/G snv 0.13 0.14
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 < 0.001 1 2014 2014
dbSNP: rs2787094
rs2787094 		0.851 0.160 20 3668514 3 prime UTR variant C/G snv 0.71
CUI: C0861155
Disease: Rhinoconjunctivitis
Rhinoconjunctivitis 		Eye Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2787094
rs2787094 		0.851 0.160 20 3668514 3 prime UTR variant C/G snv 0.71
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2787094
rs2787094 		0.851 0.160 20 3668514 3 prime UTR variant C/G snv 0.71
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2853209
rs2853209 		0.827 0.200 20 3670825 intron variant T/A snv 0.41
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs2853209
rs2853209 		0.827 0.200 20 3670825 intron variant T/A snv 0.41
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2019 2019