SLC11A1, solute carrier family 11 member 1, 6556

N. diseases: 141; N. variants: 14
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: rs17235409
rs17235409 		0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06
CUI: C0206526
Disease: Tuberculosis, Multidrug-Resistant
Tuberculosis, Multidrug-Resistant 		Infections 0.010 1.000 1 2008 2008
dbSNP: rs17235409
rs17235409 		0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2003 2003
dbSNP: rs17235409
rs17235409 		0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06
CUI: C0024115
Disease: Lung diseases
Lung diseases 		Respiratory Tract Diseases 0.010 1.000 1 2005 2005
dbSNP: rs17235409
rs17235409 		0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06
CUI: C0032231
Disease: Pleurisy
Pleurisy 		Infections; Respiratory Tract Diseases 0.010 1.000 1 2003 2003
dbSNP: rs17235409
rs17235409 		0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2003 2003
dbSNP: rs17235409
rs17235409 		0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06
CUI: C0041234
Disease: Chagas Disease
Chagas Disease 		Infections 0.010 1.000 1 2001 2001
dbSNP: rs17235409
rs17235409 		0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs17235409
rs17235409 		0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06
CUI: C1619738
Disease: Immune Reconstitution Inflammatory Syndrome
Immune Reconstitution Inflammatory Syndrome 		Immune System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs17235409
rs17235409 		0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06
CUI: C3854222
Disease: Human immunodeficiency virus (HIV) II infection category B1
Human immunodeficiency virus (HIV) II infection category B1 		0.010 1.000 1 2002 2002
dbSNP: rs17235409
rs17235409 		0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06
CUI: C0019693
Disease: HIV Infections
HIV Infections 		Infections; Immune System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs17235409
rs17235409 		0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06
CUI: C1096197
Disease: Immune reconstitution syndrome
Immune reconstitution syndrome 		0.010 1.000 1 2013 2013
dbSNP: rs17235409
rs17235409 		0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs17235409
rs17235409 		0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06
CUI: C0679362
Disease: Tuberculosis, extrapulmonary
Tuberculosis, extrapulmonary 		Infections 0.010 1.000 1 2012 2012
dbSNP: rs17235409
rs17235409 		0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06
CUI: C0041834
Disease: Erythema
Erythema 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs17235416
rs17235416 		0.807 0.200 2 218395091 3 prime UTR variant TGTG/- del 8.4E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs17235416
rs17235416 		0.807 0.200 2 218395091 3 prime UTR variant TGTG/- del 8.4E-02
CUI: C0023290
Disease: Leishmaniasis, Visceral
Leishmaniasis, Visceral 		Infections 0.010 1.000 1 2019 2019
dbSNP: rs17235416
rs17235416 		0.807 0.200 2 218395091 3 prime UTR variant TGTG/- del 8.4E-02
CUI: C0023283
Disease: Leishmaniasis, Cutaneous
Leishmaniasis, Cutaneous 		Infections; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs17235416
rs17235416 		0.807 0.200 2 218395091 3 prime UTR variant TGTG/- del 8.4E-02
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency 		Digestive System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs17235416
rs17235416 		0.807 0.200 2 218395091 3 prime UTR variant TGTG/- del 8.4E-02
CUI: C0030293
Disease: Pancreatic Insufficiency
Pancreatic Insufficiency 		Digestive System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs201565523
rs201565523 		0.925 0.240 2 218390027 missense variant C/T snv 2.9E-04 7.7E-05
CUI: C0019693
Disease: HIV Infections
HIV Infections 		Infections; Immune System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs201565523
rs201565523 		0.925 0.240 2 218390027 missense variant C/T snv 2.9E-04 7.7E-05
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		Infections 0.010 1.000 1 2002 2002
dbSNP: rs201565523
rs201565523 		0.925 0.240 2 218390027 missense variant C/T snv 2.9E-04 7.7E-05
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs2276631
rs2276631 		0.882 0.120 2 218384290 missense variant C/T snv 0.23 0.23
CUI: C4543948
Disease: Localized cutaneous leishmaniasis
Localized cutaneous leishmaniasis 		Infections; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2276631
rs2276631 		0.882 0.120 2 218384290 missense variant C/T snv 0.23 0.23
CUI: C0023290
Disease: Leishmaniasis, Visceral
Leishmaniasis, Visceral 		Infections 0.010 1.000 1 2015 2015
dbSNP: rs2276631
rs2276631 		0.882 0.120 2 218384290 missense variant C/T snv 0.23 0.23
CUI: C0030524
Disease: Paratuberculosis
Paratuberculosis 		Infections; Animal Diseases 0.010 1.000 1 2013 2013