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: rs2763979
rs2763979 		0.827 0.360 6 31826815 upstream gene variant C/T snv 0.45
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: rs2763979
rs2763979 		0.827 0.360 6 31826815 upstream gene variant C/T snv 0.45
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2013 2013
dbSNP: rs2763979
rs2763979 		0.827 0.360 6 31826815 upstream gene variant C/T snv 0.45
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: rs2763979
rs2763979 		0.827 0.360 6 31826815 upstream gene variant C/T snv 0.45
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 0
dbSNP: rs6457452
rs6457452 		0.851 0.200 6 31827773 5 prime UTR variant C/G;T snv 8.5E-05; 9.3E-02; 1.4E-05
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 0
dbSNP: rs1176119168
rs1176119168 		0.925 0.080 6 31828202 missense variant G/A;T snv 1.9E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs1176119168
rs1176119168 		0.925 0.080 6 31828202 missense variant G/A;T snv 1.9E-05
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2007 2007
dbSNP: rs2763979
rs2763979 		0.827 0.360 6 31826815 upstream gene variant C/T snv 0.45
CUI: C1862382
Disease: SVEINSSON CHORIORETINAL ATROPHY
SVEINSSON CHORIORETINAL ATROPHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2014 2014
dbSNP: rs539689
rs539689 		0.925 0.080 6 31829810 synonymous variant C/G snv 0.57 0.52
CUI: C0340100
Disease: High altitude pulmonary edema
High altitude pulmonary edema 		Respiratory Tract Diseases 0.010 1.000 1 2009 2009
dbSNP: rs539689
rs539689 		0.925 0.080 6 31829810 synonymous variant C/G snv 0.57 0.52
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2020 2020
dbSNP: rs6457452
rs6457452 		0.851 0.200 6 31827773 5 prime UTR variant C/G;T snv 8.5E-05; 9.3E-02; 1.4E-05
CUI: C0002171
Disease: Alopecia Areata
Alopecia Areata 		Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs6457452
rs6457452 		0.851 0.200 6 31827773 5 prime UTR variant C/G;T snv 8.5E-05; 9.3E-02; 1.4E-05
CUI: C0002170
Disease: Alopecia
Alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs6457452
rs6457452 		0.851 0.200 6 31827773 5 prime UTR variant C/G;T snv 8.5E-05; 9.3E-02; 1.4E-05
CUI: C1862382
Disease: SVEINSSON CHORIORETINAL ATROPHY
SVEINSSON CHORIORETINAL ATROPHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2014 2014