XBP1, X-box binding protein 1, 7494

N. diseases: 234; N. variants: 6
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: rs2239815
rs2239815 		0.925 0.080 22 28796682 non coding transcript exon variant T/C snv 0.44
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.800 1.000 1 2012 2012
dbSNP: rs2239815
rs2239815 		0.925 0.080 22 28796682 non coding transcript exon variant T/C snv 0.44
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2014 2014
dbSNP: rs2239815
rs2239815 		0.925 0.080 22 28796682 non coding transcript exon variant T/C snv 0.44
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.700 1.000 1 2012 2012
dbSNP: rs1379560430
rs1379560430 		1.000 0.080 22 28795637 missense variant C/T snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs2269577
rs2269577 		0.882 0.120 22 28800769 non coding transcript exon variant G/C snv 0.40
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2269577
rs2269577 		0.882 0.120 22 28800769 non coding transcript exon variant G/C snv 0.40
CUI: C1847835
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) 		Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs2269577
rs2269577 		0.882 0.120 22 28800769 non coding transcript exon variant G/C snv 0.40
CUI: C0042900
Disease: Vitiligo
Vitiligo 		Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs2269577
rs2269577 		0.882 0.120 22 28800769 non coding transcript exon variant G/C snv 0.40
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs35873774
rs35873774 		0.925 0.040 22 28795944 intron variant A/G snv 4.6E-02
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs35873774
rs35873774 		0.925 0.040 22 28795944 intron variant A/G snv 4.6E-02
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs35873774
rs35873774 		0.925 0.040 22 28795944 intron variant A/G snv 4.6E-02
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs527564006
rs527564006 		1.000 0.080 22 28797159 missense variant T/C snv 4.0E-05 9.8E-05
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2016 2016
dbSNP: rs770027749
rs770027749 		0.925 0.120 22 28795623 missense variant C/A;G snv 8.0E-06
CUI: C1332201
Disease: Adult Diffuse Large B-Cell Lymphoma
Adult Diffuse Large B-Cell Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs770027749
rs770027749 		0.925 0.120 22 28795623 missense variant C/A;G snv 8.0E-06
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2009 2009