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: 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: C4721579
Disease: Secondary malignant neoplasm of colon and/or rectum
Secondary malignant neoplasm of colon and/or rectum 		Digestive System Diseases; Neoplasms 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: C0565599
Disease: Maternal hypertension
Maternal 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: 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: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2015 2015
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: rs80026734
rs80026734 		7 99676132 missense variant C/T snv
CUI: C0030193
Disease: Pain
Pain 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2015 2015