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: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
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: 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: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2018 2018
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: 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