Source: BEFREE

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: rs721917
rs721917
SFTPD
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 		0.740 1.000 4 2011 2019
dbSNP: rs721917
rs721917
SFTPD
0.752 0.360 10 79946568 missense variant A/G snv 0.47 0.42
CUI: C0004096
Disease: Asthma
Asthma 		0.010 < 0.001 1 2018 2018
dbSNP: rs721917
rs721917
SFTPD
0.752 0.360 10 79946568 missense variant A/G snv 0.47 0.42
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.010 < 0.001 1 2011 2011
dbSNP: rs721917
rs721917
SFTPD
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 		0.010 1.000 1 2013 2013
dbSNP: rs721917
rs721917
SFTPD
0.752 0.360 10 79946568 missense variant A/G snv 0.47 0.42
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.010 1.000 1 2008 2008
dbSNP: rs721917
rs721917
SFTPD
0.752 0.360 10 79946568 missense variant A/G snv 0.47 0.42
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema 		0.010 1.000 1 2012 2012
dbSNP: rs721917
rs721917
SFTPD
0.752 0.360 10 79946568 missense variant A/G snv 0.47 0.42
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.010 1.000 1 2011 2011
dbSNP: rs721917
rs721917
SFTPD
0.752 0.360 10 79946568 missense variant A/G snv 0.47 0.42
CUI: C0340044
Disease: Acute exacerbation of chronic obstructive airways disease
Acute exacerbation of chronic obstructive airways disease 		0.010 1.000 1 2019 2019
dbSNP: rs721917
rs721917
SFTPD
0.752 0.360 10 79946568 missense variant A/G snv 0.47 0.42
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.010 1.000 1 2010 2010
dbSNP: rs721917
rs721917
SFTPD
0.752 0.360 10 79946568 missense variant A/G snv 0.47 0.42
CUI: C0476273
Disease: Respiratory distress
Respiratory distress 		0.010 1.000 1 2014 2014
dbSNP: rs721917
rs721917
SFTPD
0.752 0.360 10 79946568 missense variant A/G snv 0.47 0.42
CUI: C0024115
Disease: Lung diseases
Lung diseases 		0.010 1.000 1 2010 2010
dbSNP: rs721917
rs721917
SFTPD
0.752 0.360 10 79946568 missense variant A/G snv 0.47 0.42
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		0.010 < 0.001 1 2009 2009
dbSNP: rs721917
rs721917
SFTPD
0.752 0.360 10 79946568 missense variant A/G snv 0.47 0.42
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.010 < 0.001 1 2009 2009
dbSNP: rs721917
rs721917
SFTPD
0.752 0.360 10 79946568 missense variant A/G snv 0.47 0.42
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.010 < 0.001 1 2011 2011