DXO, decapping exoribonuclease, 1797

N. diseases: 7; N. variants: 5
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: rs387608
rs387608 		0.925 0.200 6 31973780 intron variant G/A snv 0.19
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 3 2007 2011
dbSNP: rs389884
rs389884 		0.776 0.440 6 31973120 non coding transcript exon variant A/G snv 7.1E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 2 2007 2011
dbSNP: rs116420479
rs116420479 		6 31973852 intron variant C/T snv 1.9E-02
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2019 2019
dbSNP: rs267600971
rs267600971 		0.882 0.080 6 31972346 missense variant G/A snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs267600971
rs267600971 		0.882 0.080 6 31972346 missense variant G/A snv
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs387608
rs387608 		0.925 0.200 6 31973780 intron variant G/A snv 0.19
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs389884
rs389884 		0.776 0.440 6 31973120 non coding transcript exon variant A/G snv 7.1E-02
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2013 2013
dbSNP: rs389884
rs389884 		0.776 0.440 6 31973120 non coding transcript exon variant A/G snv 7.1E-02
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: rs389884
rs389884 		0.776 0.440 6 31973120 non coding transcript exon variant A/G snv 7.1E-02
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		Neoplasms; Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs389884
rs389884 		0.776 0.440 6 31973120 non coding transcript exon variant A/G snv 7.1E-02
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs389884
rs389884 		0.776 0.440 6 31973120 non coding transcript exon variant A/G snv 7.1E-02
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.700 1.000 1 2009 2009
dbSNP: rs389884
rs389884 		0.776 0.440 6 31973120 non coding transcript exon variant A/G snv 7.1E-02
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs389884
rs389884 		0.776 0.440 6 31973120 non coding transcript exon variant A/G snv 7.1E-02
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2013 2013
dbSNP: rs389884
rs389884 		0.776 0.440 6 31973120 non coding transcript exon variant A/G snv 7.1E-02
CUI: C0017665
Disease: Membranous glomerulonephritis
Membranous glomerulonephritis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs389884
rs389884 		0.776 0.440 6 31973120 non coding transcript exon variant A/G snv 7.1E-02
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2012 2012
dbSNP: rs45531831
rs45531831 		6 31970343 missense variant C/G;T snv 4.0E-06; 1.7E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs267600971
rs267600971 		0.882 0.080 6 31972346 missense variant G/A snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.010 1.000 1 2019 2019