NFKBIL1, NFKB inhibitor like 1, 4795

N. diseases: 41; N. variants: 12
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: rs6929796
rs6929796 		1.000 0.120 6 31554892 intron variant G/A snv 0.22
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 2 2007 2009
dbSNP: rs2071591
rs2071591 		0.925 0.160 6 31548022 intron variant G/A;C snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs2071591
rs2071591 		0.925 0.160 6 31548022 intron variant G/A;C snv
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		Neoplasms; Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2071593
rs2071593 		6 31545022 3 prime UTR variant G/A snv 8.1E-02
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs2230365
rs2230365 		0.925 0.160 6 31557671 synonymous variant C/T snv 0.16 0.13
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs2230365
rs2230365 		0.925 0.160 6 31557671 synonymous variant C/T snv 0.16 0.13
CUI: C1629609
Disease: Age at menopause
Age at menopause 		0.700 1.000 1 2015 2015
dbSNP: rs2239705
rs2239705 		1.000 0.120 6 31545625 intron variant G/A snv 0.18 0.16
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs2523503
rs2523503 		1.000 0.120 6 31545782 non coding transcript exon variant C/A snv 0.15
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs2857605
rs2857605 		1.000 0.080 6 31557074 intron variant C/T snv 0.84
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs2857607
rs2857607 		6 31549471 intron variant C/T snv 7.4E-02
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs6929796
rs6929796 		1.000 0.120 6 31554892 intron variant G/A snv 0.22
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs750884927
rs750884927 		6 31555900 intron variant CC/-;C;CCC;CCCC delins
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2017 2017
dbSNP: rs9267488
rs9267488 		1.000 0.080 6 31546470 splice region variant A/G snv 8.1E-02 9.9E-02
CUI: C0027121
Disease: Myositis
Myositis 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs2071592
rs2071592 		0.882 0.200 6 31547563 intron variant T/A;C snv
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs2071592
rs2071592 		0.882 0.200 6 31547563 intron variant T/A;C snv
CUI: C0028768
Disease: Obsessive-Compulsive Disorder
Obsessive-Compulsive Disorder 		Mental Disorders 0.010 1.000 1 2009 2009
dbSNP: rs2071592
rs2071592 		0.882 0.200 6 31547563 intron variant T/A;C snv
CUI: C0751356
Disease: Idiopathic Inflammatory Myopathies
Idiopathic Inflammatory Myopathies 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2230365
rs2230365 		0.925 0.160 6 31557671 synonymous variant C/T snv 0.16 0.13
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs2230365
rs2230365 		0.925 0.160 6 31557671 synonymous variant C/T snv 0.16 0.13
CUI: C0023015
Disease: Language Disorders
Language Disorders 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2239707
rs2239707 		6 31557542 intron variant C/A;G;T snv
CUI: C0023015
Disease: Language Disorders
Language Disorders 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2019 2019