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: rs2287838
rs2287838 		19 9848338 3 prime UTR variant G/A snv 0.40
CUI: C0424574
Disease: Duration of sleep
Duration of sleep 		0.700 1.000 1 2015 2015
dbSNP: rs8104651
rs8104651 		19 9839451 intron variant T/A;C;G snv
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs2233678
rs2233678 		0.732 0.360 19 9834503 non coding transcript exon variant G/A;C snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.040 1.000 4 2013 2014
dbSNP: rs2233678
rs2233678 		0.732 0.360 19 9834503 non coding transcript exon variant G/A;C snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.040 1.000 4 2013 2014
dbSNP: rs2233678
rs2233678 		0.732 0.360 19 9834503 non coding transcript exon variant G/A;C snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2013 2014
dbSNP: rs2233678
rs2233678 		0.732 0.360 19 9834503 non coding transcript exon variant G/A;C snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.020 1.000 2 2010 2013
dbSNP: rs2233678
rs2233678 		0.732 0.360 19 9834503 non coding transcript exon variant G/A;C snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2013 2014
dbSNP: rs2233678
rs2233678 		0.732 0.360 19 9834503 non coding transcript exon variant G/A;C snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2011 2013
dbSNP: rs2233678
rs2233678 		0.732 0.360 19 9834503 non coding transcript exon variant G/A;C snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2011 2013
dbSNP: rs2233678
rs2233678 		0.732 0.360 19 9834503 non coding transcript exon variant G/A;C snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2011 2013
dbSNP: rs2233679
rs2233679 		0.763 0.360 19 9834678 splice region variant C/T snv 0.59
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.020 1.000 2 2013 2014
dbSNP: rs2233679
rs2233679 		0.763 0.360 19 9834678 splice region variant C/T snv 0.59
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.020 1.000 2 2013 2014
dbSNP: rs2233678
rs2233678 		0.732 0.360 19 9834503 non coding transcript exon variant G/A;C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2006 2006
dbSNP: rs2233678
rs2233678 		0.732 0.360 19 9834503 non coding transcript exon variant G/A;C snv
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs2233678
rs2233678 		0.732 0.360 19 9834503 non coding transcript exon variant G/A;C snv
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 < 0.001 1 2016 2016
dbSNP: rs2233678
rs2233678 		0.732 0.360 19 9834503 non coding transcript exon variant G/A;C snv
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2010 2010
dbSNP: rs2233678
rs2233678 		0.732 0.360 19 9834503 non coding transcript exon variant G/A;C snv
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2233678
rs2233678 		0.732 0.360 19 9834503 non coding transcript exon variant G/A;C snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs2233679
rs2233679 		0.763 0.360 19 9834678 splice region variant C/T snv 0.59
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2010 2010
dbSNP: rs2233679
rs2233679 		0.763 0.360 19 9834678 splice region variant C/T snv 0.59
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2006 2006
dbSNP: rs2233679
rs2233679 		0.763 0.360 19 9834678 splice region variant C/T snv 0.59
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs2233679
rs2233679 		0.763 0.360 19 9834678 splice region variant C/T snv 0.59
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2233679
rs2233679 		0.763 0.360 19 9834678 splice region variant C/T snv 0.59
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2233679
rs2233679 		0.763 0.360 19 9834678 splice region variant C/T snv 0.59
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs2233679
rs2233679 		0.763 0.360 19 9834678 splice region variant C/T snv 0.59
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2016 2016