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: rs1035798
rs1035798 		1.000 0.040 6 32183445 splice region variant G/A snv 0.24 0.19
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.700 1.000 1 2010 2010
dbSNP: rs1051993
rs1051993 		1.000 0.040 6 32185657 3 prime UTR variant C/A snv 5.2E-02
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		Eye Diseases 0.010 1.000 1 2017 2017
dbSNP: rs140865314
rs140865314 		1.000 0.040 6 32185629 3 prime UTR variant C/A snv
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs140865314
rs140865314 		1.000 0.040 6 32185629 3 prime UTR variant C/A snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs146827975
rs146827975 		1.000 0.040 6 32185632 3 prime UTR variant A/C snv
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs146827975
rs146827975 		1.000 0.040 6 32185632 3 prime UTR variant A/C snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs149968577
rs149968577 		6 32181364 stop gained G/A;C snv 1.0E-04
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2001 2001
dbSNP: rs169504
rs169504 		6 32185629 3 prime UTR variant C/A snv 0.20
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1800624
rs1800624 		0.658 0.480 6 32184610 upstream gene variant A/G;T snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.030 1.000 3 2013 2017
dbSNP: rs1800624
rs1800624 		0.658 0.480 6 32184610 upstream gene variant A/G;T snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.030 1.000 3 2013 2017
dbSNP: rs1800624
rs1800624 		0.658 0.480 6 32184610 upstream gene variant A/G;T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.030 1.000 3 2013 2017
dbSNP: rs1800624
rs1800624 		0.658 0.480 6 32184610 upstream gene variant A/G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2015 2016
dbSNP: rs1800624
rs1800624 		0.658 0.480 6 32184610 upstream gene variant A/G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2015 2016
dbSNP: rs1800624
rs1800624 		0.658 0.480 6 32184610 upstream gene variant A/G;T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 1.000 2 2008 2010
dbSNP: rs1800624
rs1800624 		0.658 0.480 6 32184610 upstream gene variant A/G;T snv
CUI: C0243026
Disease: Sepsis
Sepsis 		Pathological Conditions, Signs and Symptoms; Infections 0.010 1.000 1 2017 2017
dbSNP: rs1800624
rs1800624 		0.658 0.480 6 32184610 upstream gene variant A/G;T snv
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1800624
rs1800624 		0.658 0.480 6 32184610 upstream gene variant A/G;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1800624
rs1800624 		0.658 0.480 6 32184610 upstream gene variant A/G;T snv
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1800624
rs1800624 		0.658 0.480 6 32184610 upstream gene variant A/G;T snv
CUI: C4048328
Disease: cervical cancer
cervical cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2018 2018
dbSNP: rs1800624
rs1800624 		0.658 0.480 6 32184610 upstream gene variant A/G;T snv
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1800624
rs1800624 		0.658 0.480 6 32184610 upstream gene variant A/G;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 < 0.001 1 2015 2015
dbSNP: rs1800624
rs1800624 		0.658 0.480 6 32184610 upstream gene variant A/G;T snv
CUI: C1277187
Disease: Left ventricular systolic dysfunction
Left ventricular systolic dysfunction 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1800624
rs1800624 		0.658 0.480 6 32184610 upstream gene variant A/G;T snv
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease 		0.010 1.000 1 2018 2018
dbSNP: rs1800624
rs1800624 		0.658 0.480 6 32184610 upstream gene variant A/G;T snv
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1800624
rs1800624 		0.658 0.480 6 32184610 upstream gene variant A/G;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 < 0.001 1 2015 2015