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: rs545611345
rs545611345 		1.000 0.080 6 29374540 missense variant A/G snv 1.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs9257809
rs9257809 		0.790 0.320 6 29388554 intron variant A/G snv 5.8E-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: rs3749971
rs3749971 		0.925 0.160 6 29374998 missense variant G/A snv 5.5E-02 5.7E-02
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		Infections; Immune System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs4713211
rs4713211 		1.000 0.120 6 29368277 intron variant G/A snv 0.59
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: rs7753474
rs7753474 		1.000 0.120 6 29373531 3 prime UTR 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 1 2009 2009
dbSNP: rs3094548
rs3094548 		6 29387425 intron variant G/A;C snv
CUI: C0035227
Disease: Respiratory Function Tests
Respiratory Function Tests 		0.700 1.000 1 2011 2011
dbSNP: rs3094548
rs3094548 		6 29387425 intron variant G/A;C snv
CUI: C3160731
Disease: Pulmonary function (finding)
Pulmonary function (finding) 		0.700 1.000 1 2011 2011
dbSNP: rs3094548
rs3094548 		6 29387425 intron variant G/A;C snv
CUI: C0231921
Disease: Pulmonary function
Pulmonary function 		0.700 1.000 1 2011 2011
dbSNP: rs3094548
rs3094548 		6 29387425 intron variant G/A;C snv
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2011 2011
dbSNP: rs9257809
rs9257809 		0.790 0.320 6 29388554 intron variant A/G snv 5.8E-02
CUI: C0004763
Disease: Barrett Esophagus
Barrett Esophagus 		Digestive System Diseases; Neoplasms 0.820 1.000 4 2012 2017
dbSNP: rs3117440
rs3117440 		6 29373889 3 prime UTR variant T/A snv 0.95
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs3129684
rs3129684 		6 29357383 intron variant G/C snv 0.95
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs3129685
rs3129685 		6 29357825 intron variant G/A snv 0.95
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs3749971
rs3749971 		0.925 0.160 6 29374998 missense variant G/A snv 5.5E-02 5.7E-02
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2012 2012
dbSNP: rs9257809
rs9257809 		0.790 0.320 6 29388554 intron variant A/G snv 5.8E-02
CUI: C0005893
Disease: Body mass index procedure
Body mass index procedure 		0.700 1.000 1 2012 2012
dbSNP: rs9257809
rs9257809 		0.790 0.320 6 29388554 intron variant A/G snv 5.8E-02
CUI: C0578022
Disease: Finding of body mass index
Finding of body mass index 		0.700 1.000 1 2012 2012
dbSNP: rs9257809
rs9257809 		0.790 0.320 6 29388554 intron variant A/G snv 5.8E-02
CUI: C1275122
Disease: Familial multiple trichoepitheliomata
Familial multiple trichoepitheliomata 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs3749971
rs3749971 		0.925 0.160 6 29374998 missense variant G/A snv 5.5E-02 5.7E-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: rs16894878
rs16894878 		1.000 0.080 6 29419226 intron variant G/T snv 1.9E-02
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs9257809
rs9257809 		0.790 0.320 6 29388554 intron variant A/G snv 5.8E-02
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs9257809
rs9257809 		0.790 0.320 6 29388554 intron variant A/G snv 5.8E-02
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs115661163
rs115661163 		1.000 0.040 6 29369298 intron variant G/T snv
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs115661163
rs115661163 		1.000 0.040 6 29369298 intron variant G/T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs115937317
rs115937317 		1.000 0.040 6 29387425 intron variant G/A;C snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs115937317
rs115937317 		1.000 0.040 6 29387425 intron variant G/A;C snv
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		Mental Disorders 0.700 1.000 1 2017 2017