rs5030737, MBL2

N. diseases: 11
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Mannose-Binding Protein Deficiency
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
3 0.752 0.360 10 52771482 missense variant G/A snv 5.6E-02 5.0E-02 0.700 1.000 4 1994 2012
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
704 0.752 0.360 10 52771482 missense variant G/A snv 5.6E-02 5.0E-02 0.700 0
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
1172 0.752 0.360 10 52771482 missense variant G/A snv 5.6E-02 5.0E-02 0.020 1.000 2 2010 2014
Tuberculosis, Pulmonary
CUI: C0041327
Disease: Tuberculosis, Pulmonary
171 0.752 0.360 10 52771482 missense variant G/A snv 5.6E-02 5.0E-02 0.020 1.000 2 2019 2019
Adult type dermatomyositis
CUI: C0221056
Disease: Adult type dermatomyositis
31 0.752 0.360 10 52771482 missense variant G/A snv 5.6E-02 5.0E-02 0.010 1.000 1 2014 2014
Bronchopulmonary Dysplasia
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
112 0.752 0.360 10 52771482 missense variant G/A snv 5.6E-02 5.0E-02 0.010 1.000 1 2007 2007
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
1147 0.752 0.360 10 52771482 missense variant G/A snv 5.6E-02 5.0E-02 0.010 1.000 1 2016 2016
Dermatomyositis
CUI: C0011633
Disease: Dermatomyositis
34 0.752 0.360 10 52771482 missense variant G/A snv 5.6E-02 5.0E-02 0.010 1.000 1 2014 2014
Gestational Diabetes
CUI: C0085207
Disease: Gestational Diabetes
224 0.752 0.360 10 52771482 missense variant G/A snv 5.6E-02 5.0E-02 0.010 1.000 1 2004 2004
Infant, Very Low Birth Weight
CUI: C0282667
Disease: Infant, Very Low Birth Weight
1 0.752 0.360 10 52771482 missense variant G/A snv 5.6E-02 5.0E-02 0.010 1.000 1 2017 2017
Tuberculosis
CUI: C0041296
Disease: Tuberculosis
328 0.752 0.360 10 52771482 missense variant G/A snv 5.6E-02 5.0E-02 0.010 1.000 1 2018 2018