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: C0242379
Disease: Malignant neoplasm of lung
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: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		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: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		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: C4048328
Disease: cervical cancer
cervical cancer 		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: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		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: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		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: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 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: C1332986
Disease: Childhood Osteosarcoma
Childhood 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: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs2839698
rs2839698 		0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.020 1.000 2 2016 2017
dbSNP: rs2839698
rs2839698 		0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2017 2019
dbSNP: rs2839698
rs2839698 		0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.020 0.500 2 2017 2017
dbSNP: rs2839698
rs2839698 		0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.020 0.500 2 2019 2019
dbSNP: rs2839698
rs2839698 		0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2018 2019
dbSNP: rs2839698
rs2839698 		0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.020 1.000 2 2016 2017
dbSNP: rs2839698
rs2839698 		0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2017 2019
dbSNP: rs2839698
rs2839698 		0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.020 0.500 2 2019 2019
dbSNP: rs2839698
rs2839698 		0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 0.020 0.500 2 2019 2019
dbSNP: rs2839698
rs2839698 		0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2008 2008
dbSNP: rs2839698
rs2839698 		0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2019 2019
dbSNP: rs2839698
rs2839698 		0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41
CUI: C0685938
Disease: Malignant neoplasm of gastrointestinal tract
Malignant neoplasm of gastrointestinal tract 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs2839698
rs2839698 		0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41
CUI: C0151449
Disease: Primary Sjögren's syndrome
Primary Sjögren's syndrome 		Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs2839698
rs2839698 		0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41
CUI: C4048328
Disease: cervical cancer
cervical cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2019 2019
dbSNP: rs2839698
rs2839698 		0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2020 2020
dbSNP: rs2839698
rs2839698 		0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 < 0.001 1 2017 2017