SFTPD, surfactant protein D, 6441

N. diseases: 194; N. variants: 12
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: rs726288
rs726288 		1.000 0.120 10 79947217 intron variant C/T snv 2.9E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.800 1.000 2 2014 2019
dbSNP: rs721917
rs721917 		0.752 0.360 10 79946568 missense variant A/G snv 0.47 0.42
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.740 1.000 6 2011 2019
dbSNP: rs7078012
rs7078012 		1.000 0.040 10 79945677 intron variant C/T snv 0.20
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.710 1.000 2 2011 2012
dbSNP: rs3923564
rs3923564 		1.000 0.040 10 79976225 intron variant A/G snv 5.5E-02
CUI: C3536958
Disease: Surfactant protein D measurement
Surfactant protein D measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3923564
rs3923564 		1.000 0.040 10 79976225 intron variant A/G snv 5.5E-02
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 1.000 1 2012 2012
dbSNP: rs7078012
rs7078012 		1.000 0.040 10 79945677 intron variant C/T snv 0.20
CUI: C3536958
Disease: Surfactant protein D measurement
Surfactant protein D measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2243639
rs2243639 		0.882 0.080 10 79941966 missense variant T/C;G snv 0.66
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.030 0.667 3 2010 2019
dbSNP: rs2243639
rs2243639 		0.882 0.080 10 79941966 missense variant T/C;G snv 0.66
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.020 0.500 2 2009 2011
dbSNP: rs10887199
rs10887199 		1.000 0.040 10 79943078 intron variant T/C snv 0.18
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema 		Respiratory Tract Diseases 0.010 1.000 1 2012 2012
dbSNP: rs12219080
rs12219080 		1.000 0.040 10 79949523 intron variant C/T snv 8.7E-02
CUI: C1320214
Disease: Invasive Streptococcus pneumoniae disease
Invasive Streptococcus pneumoniae disease 		Infections 0.010 1.000 1 2011 2011
dbSNP: rs17886286
rs17886286 		1.000 0.040 10 79944096 intron variant C/G;T snv
CUI: C1320214
Disease: Invasive Streptococcus pneumoniae disease
Invasive Streptococcus pneumoniae disease 		Infections 0.010 1.000 1 2011 2011
dbSNP: rs2243639
rs2243639 		0.882 0.080 10 79941966 missense variant T/C;G snv 0.66
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2243639
rs2243639 		0.882 0.080 10 79941966 missense variant T/C;G snv 0.66
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs2245121
rs2245121 		1.000 0.040 10 79939482 intron variant G/A snv 0.48
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 1.000 1 2011 2011
dbSNP: rs3088308
rs3088308 		1.000 0.040 10 79938112 missense variant A/T snv 9.9E-02 6.5E-02
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 1.000 1 2012 2012
dbSNP: rs3088308
rs3088308 		1.000 0.040 10 79938112 missense variant A/T snv 9.9E-02 6.5E-02
CUI: C0476273
Disease: Respiratory distress
Respiratory distress 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs6413520
rs6413520 		1.000 0.040 10 79946525 synonymous variant A/G snv 4.6E-02 4.8E-02
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 1.000 1 2011 2011
dbSNP: rs721917
rs721917 		0.752 0.360 10 79946568 missense variant A/G snv 0.47 0.42
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs721917
rs721917 		0.752 0.360 10 79946568 missense variant A/G snv 0.47 0.42
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs721917
rs721917 		0.752 0.360 10 79946568 missense variant A/G snv 0.47 0.42
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs721917
rs721917 		0.752 0.360 10 79946568 missense variant A/G snv 0.47 0.42
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs721917
rs721917 		0.752 0.360 10 79946568 missense variant A/G snv 0.47 0.42
CUI: C0024115
Disease: Lung diseases
Lung diseases 		Respiratory Tract Diseases 0.010 1.000 1 2010 2010
dbSNP: rs721917
rs721917 		0.752 0.360 10 79946568 missense variant A/G snv 0.47 0.42
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs721917
rs721917 		0.752 0.360 10 79946568 missense variant A/G snv 0.47 0.42
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema 		Respiratory Tract Diseases 0.010 1.000 1 2012 2012
dbSNP: rs721917
rs721917 		0.752 0.360 10 79946568 missense variant A/G snv 0.47 0.42
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.010 1.000 1 2010 2010