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: rs6735641
rs6735641 		2 201315768 intron variant T/C snv 0.54
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2012 2012
dbSNP: rs6743068
rs6743068 		1.000 0.040 2 201289197 intron variant A/G snv 0.72
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs6745435
rs6745435 		2 201337840 intron variant G/A snv 0.47
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2012 2012
dbSNP: rs6757783
rs6757783 		2 201335101 intron variant C/T snv 0.63
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2012 2012
dbSNP: rs7579792
rs7579792 		2 201335727 intron variant A/G snv 0.86
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2012 2012
dbSNP: rs7582362
rs7582362 		2 201311571 intron variant A/G snv 0.72
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2012 2012
dbSNP: rs7597617
rs7597617 		2 201338512 intron variant G/A snv 0.63
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2012 2012
dbSNP: rs9288318
rs9288318 		2 201331340 intron variant C/A snv 0.63
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2012 2012
dbSNP: rs13014235
rs13014235 		0.851 0.040 2 201350769 missense variant C/G snv 0.62 0.63
CUI: C3811653
Disease: Experimental Organism Basal Cell Carcinoma
Experimental Organism Basal Cell Carcinoma 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs13014235
rs13014235 		0.851 0.040 2 201350769 missense variant C/G snv 0.62 0.63
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs13014235
rs13014235 		0.851 0.040 2 201350769 missense variant C/G snv 0.62 0.63
CUI: C0751676
Disease: Basal Cell Cancer
Basal Cell Cancer 		Neoplasms 0.700 1.000 1 2015 2015
dbSNP: rs13014235
rs13014235 		0.851 0.040 2 201350769 missense variant C/G snv 0.62 0.63
CUI: C0206710
Disease: Basal Cell Neoplasm
Basal Cell Neoplasm 		Neoplasms 0.700 1.000 1 2015 2015
dbSNP: rs13014235
rs13014235 		0.851 0.040 2 201350769 missense variant C/G snv 0.62 0.63
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		Neoplasms 0.700 1.000 1 2015 2015
dbSNP: rs17468277
rs17468277 		0.925 0.080 2 201289477 synonymous variant C/A;T snv 4.0E-06; 9.0E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2010 2017
dbSNP: rs17468277
rs17468277 		0.925 0.080 2 201289477 synonymous variant C/A;T snv 4.0E-06; 9.0E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2010 2017
dbSNP: rs17468277
rs17468277 		0.925 0.080 2 201289477 synonymous variant C/A;T snv 4.0E-06; 9.0E-02
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs1035142
rs1035142 		0.807 0.200 2 201288355 3 prime UTR variant T/C;G snv 0.54
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1035142
rs1035142 		0.807 0.200 2 201288355 3 prime UTR variant T/C;G snv 0.54
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1035142
rs1035142 		0.807 0.200 2 201288355 3 prime UTR variant T/C;G snv 0.54
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.700 1.000 1 2011 2011
dbSNP: rs1035142
rs1035142 		0.807 0.200 2 201288355 3 prime UTR variant T/C;G snv 0.54
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs1035142
rs1035142 		0.807 0.200 2 201288355 3 prime UTR variant T/C;G snv 0.54
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1035142
rs1035142 		0.807 0.200 2 201288355 3 prime UTR variant T/C;G snv 0.54
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1035142
rs1035142 		0.807 0.200 2 201288355 3 prime UTR variant T/C;G snv 0.54
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs700635
rs700635 		0.925 0.040 2 201288502 3 prime UTR variant C/A snv 0.72
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs700635
rs700635 		0.925 0.040 2 201288502 3 prime UTR variant C/A snv 0.72
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.700 1.000 1 2011 2011