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: rs13016963
rs13016963 		0.851 0.080 2 201298088 intron variant A/G snv 0.59
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.800 1.000 2 2011 2017
dbSNP: rs6715284
rs6715284 		1.000 0.120 2 201289674 intron variant C/G;T snv 0.12
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.800 1.000 2 2014 2019
dbSNP: rs13016963
rs13016963 		0.851 0.080 2 201298088 intron variant A/G snv 0.59
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.710 1.000 2 2012 2017
dbSNP: rs10186527
rs10186527 		2 201335852 intron variant C/T snv 0.54
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2012 2012
dbSNP: rs10197246
rs10197246 		2 201340018 intron variant T/C snv 0.72
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2012 2012
dbSNP: rs10201587
rs10201587 		2 201338068 intron variant A/G snv 0.47
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2012 2012
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: rs10454127
rs10454127 		2 201347651 intron variant G/A;T snv
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2012 2012
dbSNP: rs11898821
rs11898821 		2 201334965 intron variant T/C snv 0.46
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: 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: rs13016963
rs13016963 		0.851 0.080 2 201298088 intron variant A/G snv 0.59
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2014 2014
dbSNP: rs1830298
rs1830298 		1.000 0.080 2 201316524 intron variant C/T snv 0.72
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs2080303
rs2080303 		0.882 0.040 2 201300483 intron variant T/C snv 0.72
CUI: C0206710
Disease: Basal Cell Neoplasm
Basal Cell Neoplasm 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs2080303
rs2080303 		0.882 0.040 2 201300483 intron variant T/C snv 0.72
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs2080303
rs2080303 		0.882 0.040 2 201300483 intron variant T/C snv 0.72
CUI: C0751676
Disease: Basal Cell Cancer
Basal Cell Cancer 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs2080304
rs2080304 		2 201321699 intron variant G/C snv 0.59
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2012 2012
dbSNP: rs2110690
rs2110690 		2 201320409 intron variant A/G snv 0.42
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2012 2012
dbSNP: rs2349073
rs2349073 		2 201322263 intron variant C/A snv 0.75
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2012 2012
dbSNP: rs6435079
rs6435079 		2 201335608 intron variant C/G;T snv
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2012 2012
dbSNP: rs6714430
rs6714430 		0.882 0.040 2 201288961 intron variant C/T snv 0.72
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs6714430
rs6714430 		0.882 0.040 2 201288961 intron variant C/T snv 0.72
CUI: C0751676
Disease: Basal Cell Cancer
Basal Cell Cancer 		Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs6714430
rs6714430 		0.882 0.040 2 201288961 intron variant C/T snv 0.72
CUI: C0206710
Disease: Basal Cell Neoplasm
Basal Cell Neoplasm 		Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs6714736
rs6714736 		2 201349425 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