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: rs869025313
rs869025313 		1.000 3 66263369 missense variant T/G snv
CUI: C4225206
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28 		0.800 1.000 1 2015 2015
dbSNP: rs869025314
rs869025314 		1.000 3 66262055 missense variant C/T snv 7.0E-06
CUI: C4225206
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28 		0.800 1.000 1 2015 2015
dbSNP: rs869025315
rs869025315 		1.000 3 66369505 missense variant C/T snv
CUI: C4225206
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28 		0.800 1.000 1 2015 2015
dbSNP: rs145763646
rs145763646 		0.925 0.080 3 66173478 intron variant G/A snv 0.13
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs145763646
rs145763646 		0.925 0.080 3 66173478 intron variant G/A snv 0.13
CUI: C0006370
Disease: Bulimia
Bulimia 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2018 2018
dbSNP: rs147372871
rs147372871 		1.000 0.080 3 66386050 missense variant G/A;T snv 2.9E-04; 4.0E-06
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs17831815
rs17831815 		3 66386662 3 prime UTR variant T/C snv 0.30
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2017 2017
dbSNP: rs202007714
rs202007714 		1.000 0.040 3 66383098 missense variant G/A;C snv 1.4E-04; 4.0E-06
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2018 2018
dbSNP: rs202007714
rs202007714 		1.000 0.040 3 66383098 missense variant G/A;C snv 1.4E-04; 4.0E-06
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2018 2018
dbSNP: rs202007714
rs202007714 		1.000 0.040 3 66383098 missense variant G/A;C snv 1.4E-04; 4.0E-06
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2018 2018
dbSNP: rs202007714
rs202007714 		1.000 0.040 3 66383098 missense variant G/A;C snv 1.4E-04; 4.0E-06
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 1 2018 2018
dbSNP: rs2242285
rs2242285 		3 66381178 intron variant A/C;G snv
CUI: C0429097
Disease: QRS complex feature
QRS complex feature 		0.700 1.000 1 2016 2016
dbSNP: rs2242285
rs2242285 		3 66381178 intron variant A/C;G snv
CUI: C0018803
Disease: Heart Function Tests
Heart Function Tests 		0.700 1.000 1 2010 2010
dbSNP: rs2306272
rs2306272 		1.000 0.080 3 66384219 missense variant T/C snv 0.31 0.25
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs2306272
rs2306272 		1.000 0.080 3 66384219 missense variant T/C snv 0.31 0.25
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs332388
rs332388 		1.000 0.080 3 66361431 intron variant T/C snv 0.55
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs332388
rs332388 		1.000 0.080 3 66361431 intron variant T/C snv 0.55
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs332388
rs332388 		1.000 0.080 3 66361431 intron variant T/C snv 0.55
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: rs6781752
rs6781752 		0.776 0.080 3 66314739 intron variant G/A snv 0.24
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 1 2019 2019
dbSNP: rs6781752
rs6781752 		0.776 0.080 3 66314739 intron variant G/A snv 0.24
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2019 2019
dbSNP: rs6781752
rs6781752 		0.776 0.080 3 66314739 intron variant G/A snv 0.24
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs6781752
rs6781752 		0.776 0.080 3 66314739 intron variant G/A snv 0.24
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: rs6781752
rs6781752 		0.776 0.080 3 66314739 intron variant G/A snv 0.24
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs6781752
rs6781752 		0.776 0.080 3 66314739 intron variant G/A snv 0.24
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs6781752
rs6781752 		0.776 0.080 3 66314739 intron variant G/A snv 0.24
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 1 2019 2019