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: rs217727
rs217727 		0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.740 0.800 5 2016 2019
dbSNP: rs217727
rs217727 		0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.050 0.800 5 2016 2019
dbSNP: rs217727
rs217727 		0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.050 0.800 5 2016 2019
dbSNP: rs217727
rs217727 		0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.040 0.750 4 2016 2019
dbSNP: rs217727
rs217727 		0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 0.020 0.500 2 2019 2019
dbSNP: rs217727
rs217727 		0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2016 2019
dbSNP: rs217727
rs217727 		0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.020 1.000 2 2016 2019
dbSNP: rs217727
rs217727 		0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2016 2019
dbSNP: rs217727
rs217727 		0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.020 1.000 2 2018 2019
dbSNP: rs217727
rs217727 		0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 2 2017 2018
dbSNP: rs217727
rs217727 		0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2016 2019
dbSNP: rs217727
rs217727 		0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.020 0.500 2 2019 2019
dbSNP: rs217727
rs217727 		0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.020 0.500 2 2019 2019
dbSNP: rs217727
rs217727 		0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs217727
rs217727 		0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2016 2016
dbSNP: rs217727
rs217727 		0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs217727
rs217727 		0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs217727
rs217727 		0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs217727
rs217727 		0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs217727
rs217727 		0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs217727
rs217727 		0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs217727
rs217727 		0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs217727
rs217727 		0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs217727
rs217727 		0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs217727
rs217727 		0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2020 2020