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: 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: 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: 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
dbSNP: rs12333599
rs12333599 		7 99654556 intron variant G/C snv 0.29
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2018 2018
dbSNP: rs4646450
rs4646450 		0.882 0.120 7 99668695 3 prime UTR variant G/A snv 0.38
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs4646450
rs4646450 		0.882 0.120 7 99668695 3 prime UTR variant G/A snv 0.38
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.010 1.000 1 2018 2018
dbSNP: rs4646450
rs4646450 		0.882 0.120 7 99668695 3 prime UTR variant G/A snv 0.38
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		Neoplasms; Immune System Diseases; 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: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		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: 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: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs41303343
rs41303343 		7 99652770 frameshift variant -/A delins 4.0E-06; 7.3E-03 3.1E-02
CUI: C0519826
Disease: ASSAY FOR TACROLIMUS
ASSAY FOR TACROLIMUS 		0.700 1.000 1 2019 2019
dbSNP: rs776746
rs776746 		0.724 0.400 7 99672916 splice acceptor variant T/C snv 0.72
CUI: C0519826
Disease: ASSAY FOR TACROLIMUS
ASSAY FOR TACROLIMUS 		0.700 1.000 1 2019 2019