ITGAM, integrin subunit alpha M, 3684

N. diseases: 343; 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: rs1143679
rs1143679 		0.732 0.520 16 31265490 missense variant G/A snv 9.7E-02 0.11
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.900 1.000 23 2009 2019
dbSNP: rs9888739
rs9888739 		0.882 0.120 16 31301932 intron variant C/T snv 0.26
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.810 1.000 5 2008 2014
dbSNP: rs11860650
rs11860650 		0.882 0.120 16 31315385 intron variant C/T snv 0.14
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.800 1.000 1 2013 2013
dbSNP: rs1143678
rs1143678 		1.000 0.080 16 31331684 missense variant C/T snv 0.15 0.17
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.730 1.000 6 2008 2017
dbSNP: rs1143683
rs1143683 		1.000 0.080 16 31325567 missense variant C/T snv 0.16 0.16
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.730 1.000 4 2009 2013
dbSNP: rs9937837
rs9937837 		1.000 0.080 16 31287618 intron variant T/G snv 0.40
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.710 1.000 2 2011 2011
dbSNP: rs11860650
rs11860650 		0.882 0.120 16 31315385 intron variant C/T snv 0.14
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 2 2009 2013
dbSNP: rs34572943
rs34572943 		1.000 0.080 16 31261032 intron variant G/A snv 0.11
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 2 2015 2017
dbSNP: rs11860650
rs11860650 		0.882 0.120 16 31315385 intron variant C/T snv 0.14
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs12928725
rs12928725 		1.000 0.080 16 31272675 intron variant G/A;T snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs2359661
rs2359661 		1.000 0.040 16 31269826 intron variant A/G snv 0.48
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.700 1.000 1 2013 2013
dbSNP: rs35472514
rs35472514 		1.000 0.080 16 31272002 intron variant C/G;T snv 0.12 0.12
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs7190018
rs7190018 		1.000 0.040 16 31290157 intron variant G/A;C snv
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.700 1.000 1 2013 2013
dbSNP: rs7193268
rs7193268 		1.000 0.080 16 31329676 intron variant C/T snv 0.20
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1143679
rs1143679 		0.732 0.520 16 31265490 missense variant G/A snv 9.7E-02 0.11
CUI: C0027697
Disease: Nephritis
Nephritis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2014 2018
dbSNP: rs1143679
rs1143679 		0.732 0.520 16 31265490 missense variant G/A snv 9.7E-02 0.11
CUI: C0024143
Disease: Lupus Nephritis
Lupus Nephritis 		Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases 0.020 1.000 2 2015 2018
dbSNP: rs1143679
rs1143679 		0.732 0.520 16 31265490 missense variant G/A snv 9.7E-02 0.11
CUI: C0024138
Disease: Lupus Erythematosus, Discoid
Lupus Erythematosus, Discoid 		Skin and Connective Tissue Diseases 0.020 1.000 2 2012 2017
dbSNP: rs1143679
rs1143679 		0.732 0.520 16 31265490 missense variant G/A snv 9.7E-02 0.11
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.020 0.500 2 2015 2019
dbSNP: rs1143679
rs1143679 		0.732 0.520 16 31265490 missense variant G/A snv 9.7E-02 0.11
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.020 1.000 2 2012 2016
dbSNP: rs1365988292
rs1365988292 		0.925 0.080 16 31261756 synonymous variant A/G snv
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.020 1.000 2 2011 2012
dbSNP: rs1143679
rs1143679 		0.732 0.520 16 31265490 missense variant G/A snv 9.7E-02 0.11
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1143679
rs1143679 		0.732 0.520 16 31265490 missense variant G/A snv 9.7E-02 0.11
CUI: C0409974
Disease: Lupus Erythematosus
Lupus Erythematosus 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1143679
rs1143679 		0.732 0.520 16 31265490 missense variant G/A snv 9.7E-02 0.11
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1143679
rs1143679 		0.732 0.520 16 31265490 missense variant G/A snv 9.7E-02 0.11
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1143679
rs1143679 		0.732 0.520 16 31265490 missense variant G/A snv 9.7E-02 0.11
CUI: C0024131
Disease: Lupus Vulgaris
Lupus Vulgaris 		Infections; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012