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: 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: 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: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2016 2016
dbSNP: rs2735971
rs2735971 		0.790 0.240 11 2000419 intron variant T/C snv
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: rs2839698
rs2839698 		0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41
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: rs3741219
rs3741219 		0.776 0.280 11 1995389 non coding transcript exon variant A/G snv 0.42
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		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: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2018 2019
dbSNP: rs11042170
rs11042170 		1.000 0.080 11 2000395 intron variant C/T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs2107425
rs2107425 		0.732 0.280 11 1999845 intron variant C/T snv
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: 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: 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: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs2735970
rs2735970 		1.000 0.080 11 2000585 intron variant T/C snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs2735971
rs2735971 		0.790 0.240 11 2000419 intron variant T/C snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs2735971
rs2735971 		0.790 0.240 11 2000419 intron variant T/C snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs2839698
rs2839698 		0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs2839698
rs2839698 		0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs3024270
rs3024270 		0.776 0.200 11 1996209 non coding transcript exon variant C/G;T snv 0.46; 5.2E-06
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs3741219
rs3741219 		0.776 0.280 11 1995389 non coding transcript exon variant A/G snv 0.42
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs4930101
rs4930101 		1.000 0.080 11 2000629 intron variant G/T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 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: 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: rs2067051
rs2067051 		0.882 0.120 11 1996938 non coding transcript exon variant C/A;T snv 7.0E-06; 0.41
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee 		Musculoskeletal Diseases 0.010 1.000 1 2018 2018