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: rs2285803
rs2285803 		0.925 0.160 6 31139481 intron variant T/C snv 0.72
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.810 1.000 2 2013 2014
dbSNP: rs3130573
rs3130573 		1.000 0.040 6 31138491 non coding transcript exon variant A/C;G snv 8.1E-06; 0.33
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.800 1.000 1 2011 2011
dbSNP: rs1265097
rs1265097 		6 31138682 missense variant C/A;T snv 0.13; 4.0E-06
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 3 2014 2019
dbSNP: rs149979052
rs149979052 		1.000 0.040 6 31137370 intron variant C/T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 2 2017 2019
dbSNP: rs1966
rs1966 		1.000 0.120 6 31139956 3 prime UTR variant C/T snv 0.23 0.21
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: rs1265091
rs1265091 		6 31140352 upstream gene variant C/T snv 0.18
CUI: C0202230
Disease: Thyroid stimulating hormone measurement
Thyroid stimulating hormone measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1265093
rs1265093 		1.000 0.040 6 31139410 non coding transcript exon variant G/A snv 0.25
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1265093
rs1265093 		1.000 0.040 6 31139410 non coding transcript exon variant G/A snv 0.25
CUI: C3536958
Disease: Surfactant protein D measurement
Surfactant protein D measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1265099
rs1265099 		0.925 0.040 6 31137636 3 prime UTR variant A/G snv 0.41
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs1265099
rs1265099 		0.925 0.040 6 31137636 3 prime UTR variant A/G snv 0.41
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs149979052
rs149979052 		1.000 0.040 6 31137370 intron variant C/T snv
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs16898823
rs16898823 		6 31138829 non coding transcript exon variant A/T snv 0.14 0.11
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs2074478
rs2074478 		1.000 0.040 6 31137856 3 prime UTR variant C/G;T snv
CUI: C0149745
Disease: Oral Ulcer
Oral Ulcer 		Stomatognathic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs3094663
rs3094663 		1.000 0.160 6 31139310 non coding transcript exon variant T/C snv 0.72
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 1 2013 2013
dbSNP: rs3130454
rs3130454 		1.000 0.160 6 31140708 upstream gene variant G/A snv 0.71
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 1 2013 2013
dbSNP: rs2233947
rs2233947 		0.851 0.080 6 31139278 non coding transcript exon variant C/T snv 9.3E-03
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2233947
rs2233947 		0.851 0.080 6 31139278 non coding transcript exon variant C/T snv 9.3E-03
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2233947
rs2233947 		0.851 0.080 6 31139278 non coding transcript exon variant C/T snv 9.3E-03
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2233947
rs2233947 		0.851 0.080 6 31139278 non coding transcript exon variant C/T snv 9.3E-03
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs2233947
rs2233947 		0.851 0.080 6 31139278 non coding transcript exon variant C/T snv 9.3E-03
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2233947
rs2233947 		0.851 0.080 6 31139278 non coding transcript exon variant C/T snv 9.3E-03
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs2285803
rs2285803 		0.925 0.160 6 31139481 intron variant T/C snv 0.72
CUI: C0026470
Disease: Monoclonal Gammopathy of Undetermined Significance
Monoclonal Gammopathy of Undetermined Significance 		Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs9263726
rs9263726 		1.000 0.040 6 31138722 missense variant G/A snv 0.11 0.14
CUI: C0543698
Disease: Hypersensitive syndrome
Hypersensitive syndrome 		Immune System Diseases 0.010 1.000 1 2019 2019