SF3A3, splicing factor 3a subunit 3, 10946

N. diseases: 4; N. variants: 3
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: rs12569027
rs12569027 		1 37983491 intron variant C/G;T snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs4072980
rs4072980 		1.000 0.040 1 37990434 upstream gene variant G/A;C snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs4360494
rs4360494 		0.776 0.080 1 37990219 upstream gene variant G/C snv 0.45
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 1 2019 2019
dbSNP: rs4360494
rs4360494 		0.776 0.080 1 37990219 upstream gene variant G/C snv 0.45
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs4360494
rs4360494 		0.776 0.080 1 37990219 upstream gene variant G/C snv 0.45
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs4360494
rs4360494 		0.776 0.080 1 37990219 upstream gene variant G/C snv 0.45
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs4360494
rs4360494 		0.776 0.080 1 37990219 upstream gene variant G/C snv 0.45
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs4360494
rs4360494 		0.776 0.080 1 37990219 upstream gene variant G/C snv 0.45
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 1 2019 2019
dbSNP: rs4360494
rs4360494 		0.776 0.080 1 37990219 upstream gene variant G/C snv 0.45
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2019 2019
dbSNP: rs4360494
rs4360494 		0.776 0.080 1 37990219 upstream gene variant G/C snv 0.45
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs4360494
rs4360494 		0.776 0.080 1 37990219 upstream gene variant G/C snv 0.45
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs4360494
rs4360494 		0.776 0.080 1 37990219 upstream gene variant G/C snv 0.45
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs4360494
rs4360494 		0.776 0.080 1 37990219 upstream gene variant G/C snv 0.45
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs4360494
rs4360494 		0.776 0.080 1 37990219 upstream gene variant G/C snv 0.45
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 1 2019 2019