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: rs1474798132
rs1474798132 		0.925 0.120 7 99665170 synonymous variant T/A;C snv 4.0E-06; 4.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2007 2007
dbSNP: rs777175289
rs777175289 		1.000 0.080 7 99664085 synonymous variant T/C snv 4.5E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2007 2007
dbSNP: rs777926364
rs777926364 		0.882 0.120 7 99664017 missense variant C/T snv 4.2E-06
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs777926364
rs777926364 		0.882 0.120 7 99664017 missense variant C/T snv 4.2E-06
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs777926364
rs777926364 		0.882 0.120 7 99664017 missense variant C/T snv 4.2E-06
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.010 1.000 1 2008 2008
dbSNP: rs200764640
rs200764640 		0.925 0.080 7 99666641 missense variant T/C snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs200764640
rs200764640 		0.925 0.080 7 99666641 missense variant T/C snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs776746
rs776746 		0.724 0.400 7 99672916 splice acceptor variant T/C snv 0.72
CUI: C0852036
Disease: Pregnancy associated hypertension
Pregnancy associated hypertension 		Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases 0.010 < 0.001 1 2010 2010
dbSNP: rs776746
rs776746 		0.724 0.400 7 99672916 splice acceptor variant T/C snv 0.72
CUI: C0565599
Disease: Maternal hypertension
Maternal hypertension 		Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases 0.010 < 0.001 1 2010 2010
dbSNP: rs4646450
rs4646450 		0.882 0.120 7 99668695 3 prime UTR variant G/A snv 0.38
CUI: C0441683
Disease: Hormone measurement
Hormone measurement 		0.700 1.000 1 2011 2011
dbSNP: rs1474798132
rs1474798132 		0.925 0.120 7 99665170 synonymous variant T/A;C snv 4.0E-06; 4.0E-06
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		Infections 0.010 1.000 1 2012 2012
dbSNP: rs1251035592
rs1251035592 		1.000 0.040 7 99664039 missense variant T/C snv 4.2E-06
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs776746
rs776746 		0.724 0.400 7 99672916 splice acceptor variant T/C snv 0.72
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs776746
rs776746 		0.724 0.400 7 99672916 splice acceptor variant T/C snv 0.72
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs776746
rs776746 		0.724 0.400 7 99672916 splice acceptor variant T/C snv 0.72
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs776746
rs776746 		0.724 0.400 7 99672916 splice acceptor variant T/C snv 0.72
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs776746
rs776746 		0.724 0.400 7 99672916 splice acceptor variant T/C snv 0.72
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs776746
rs776746 		0.724 0.400 7 99672916 splice acceptor variant T/C snv 0.72
CUI: C0023530
Disease: Leukopenia
Leukopenia 		Hemic and Lymphatic Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs776746
rs776746 		0.724 0.400 7 99672916 splice acceptor variant T/C snv 0.72
CUI: C0027947
Disease: Neutropenia
Neutropenia 		Hemic and Lymphatic Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs776746
rs776746 		0.724 0.400 7 99672916 splice acceptor variant T/C snv 0.72
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs776746
rs776746 		0.724 0.400 7 99672916 splice acceptor variant T/C snv 0.72
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs776746
rs776746 		0.724 0.400 7 99672916 splice acceptor variant T/C snv 0.72
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		Infections 0.020 1.000 2 2012 2015
dbSNP: rs776746
rs776746 		0.724 0.400 7 99672916 splice acceptor variant T/C snv 0.72
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.020 1.000 2 2014 2015
dbSNP: rs15524
rs15524 		1.000 0.040 7 99648291 3 prime UTR variant A/G snv 0.17 0.25
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs776746
rs776746 		0.724 0.400 7 99672916 splice acceptor variant T/C snv 0.72
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 1.000 1 2015 2015