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: rs3731863
rs3731863 		0.925 0.040 2 218387485 intron variant C/T snv 8.0E-02
CUI: C0151332
Disease: Active tuberculosis
Active tuberculosis 		Infections 0.010 1.000 1 2009 2009
dbSNP: rs3731865
rs3731865 		0.882 0.160 2 218385280 non coding transcript exon variant G/A;C;T snv 0.23; 1.4E-04
CUI: C0151332
Disease: Active tuberculosis
Active tuberculosis 		Infections 0.010 1.000 1 2009 2009
dbSNP: rs17235409
rs17235409 		0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs17235409
rs17235409 		0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06
CUI: C0026918
Disease: Mycobacterium Infections
Mycobacterium Infections 		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: 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: rs2279014
rs2279014 		1.000 0.040 2 218396453 3 prime UTR variant C/T snv 0.37
CUI: C0026916
Disease: Mycobacterium avium-intracellulare Infection
Mycobacterium avium-intracellulare Infection 		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: 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: C1096197
Disease: Immune reconstitution syndrome
Immune reconstitution syndrome 		0.010 1.000 1 2013 2013
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
dbSNP: rs17235409
rs17235409 		0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		Infections 0.100 1.000 13 2002 2015
dbSNP: rs3731865
rs3731865 		0.882 0.160 2 218385280 non coding transcript exon variant G/A;C;T snv 0.23; 1.4E-04
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		Infections 0.030 1.000 3 2009 2015
dbSNP: rs17235416
rs17235416 		0.807 0.200 2 218395091 3 prime UTR variant TGTG/- del 8.4E-02
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		Infections 0.020 1.000 2 2009 2015
dbSNP: rs3731865
rs3731865 		0.882 0.160 2 218385280 non coding transcript exon variant G/A;C;T snv 0.23; 1.4E-04
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.020 1.000 2 2009 2015
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: rs2279015
rs2279015 		0.882 0.080 2 218394547 non coding transcript exon variant G/A snv 0.51
CUI: C4543948
Disease: Localized cutaneous leishmaniasis
Localized cutaneous leishmaniasis 		Infections; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3731865
rs3731865 		0.882 0.160 2 218385280 non coding transcript exon variant G/A;C;T snv 0.23; 1.4E-04
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3731865
rs3731865 		0.882 0.160 2 218385280 non coding transcript exon variant G/A;C;T snv 0.23; 1.4E-04
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs7573065
rs7573065 		1.000 0.120 2 218381984 upstream gene variant C/A;T snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs7573065
rs7573065 		1.000 0.120 2 218381984 upstream gene variant C/A;T snv
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs7573065
rs7573065 		1.000 0.120 2 218381984 upstream gene variant C/A;T snv
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs17235409
rs17235409 		0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor 		0.010 < 0.001 1 2016 2016
dbSNP: rs751683612
rs751683612 		1.000 0.040 2 218394932 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		Infections 0.010 1.000 1 2016 2016
dbSNP: rs17235409
rs17235409 		0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		Infections; Respiratory Tract Diseases 0.090 1.000 9 2005 2017