Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs699947
rs699947
0.570 0.680 6 43768652 upstream gene variant A/C;T snv
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy
0.060 0.833 6 2010 2017
dbSNP: rs833061
rs833061
0.605 0.600 6 43769749 upstream gene variant C/G;T snv
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.060 0.833 6 2009 2019
dbSNP: rs699947
rs699947
0.570 0.680 6 43768652 upstream gene variant A/C;T snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.050 0.800 5 2010 2018
dbSNP: rs699947
rs699947
0.570 0.680 6 43768652 upstream gene variant A/C;T snv
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.050 1.000 5 2016 2018
dbSNP: rs1222213359
rs1222213359
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.040 1.000 4 2005 2018
dbSNP: rs1413711
rs1413711
0.882 0.200 6 43772941 intron variant T/A;C snv
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.040 1.000 4 2012 2014
dbSNP: rs699947
rs699947
0.570 0.680 6 43768652 upstream gene variant A/C;T snv
Conventional (Clear Cell) Renal Cell Carcinoma
0.040 0.750 4 2017 2018
dbSNP: rs699947
rs699947
0.570 0.680 6 43768652 upstream gene variant A/C;T snv
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.040 0.750 4 2017 2018
dbSNP: rs833061
rs833061
0.605 0.600 6 43769749 upstream gene variant C/G;T snv
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy
0.040 1.000 4 2011 2017
dbSNP: rs833061
rs833061
0.605 0.600 6 43769749 upstream gene variant C/G;T snv
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.040 1.000 4 2014 2020
dbSNP: rs1222213359
rs1222213359
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.030 1.000 3 2007 2017
dbSNP: rs1222213359
rs1222213359
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.030 1.000 3 2009 2017
dbSNP: rs1222213359
rs1222213359
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
0.030 1.000 3 2008 2012
dbSNP: rs1222213359
rs1222213359
0.574 0.720 6 43770966 missense variant G/A snv
Conventional (Clear Cell) Renal Cell Carcinoma
0.030 1.000 3 2007 2017
dbSNP: rs1222213359
rs1222213359
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
0.030 1.000 3 2008 2012
dbSNP: rs25648
rs25648
0.742 0.320 6 43771240 synonymous variant C/G;T snv 8.5E-06; 0.16
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.030 1.000 3 2010 2019
dbSNP: rs25648
rs25648
0.742 0.320 6 43771240 synonymous variant C/G;T snv 8.5E-06; 0.16
Malignant neoplasm of urinary bladder
0.030 1.000 3 2010 2019
dbSNP: rs25648
rs25648
0.742 0.320 6 43771240 synonymous variant C/G;T snv 8.5E-06; 0.16
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
0.030 1.000 3 2010 2019
dbSNP: rs699947
rs699947
0.570 0.680 6 43768652 upstream gene variant A/C;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.030 1.000 3 2012 2019
dbSNP: rs699947
rs699947
0.570 0.680 6 43768652 upstream gene variant A/C;T snv
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.030 0.667 3 2017 2019
dbSNP: rs699947
rs699947
0.570 0.680 6 43768652 upstream gene variant A/C;T snv
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
0.030 0.667 3 2017 2019
dbSNP: rs699947
rs699947
0.570 0.680 6 43768652 upstream gene variant A/C;T snv
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.030 1.000 3 2010 2018
dbSNP: rs699947
rs699947
0.570 0.680 6 43768652 upstream gene variant A/C;T snv
Malignant neoplasm of urinary bladder
0.030 0.667 3 2017 2019
dbSNP: rs699947
rs699947
0.570 0.680 6 43768652 upstream gene variant A/C;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.030 1.000 3 2014 2018
dbSNP: rs699947
rs699947
0.570 0.680 6 43768652 upstream gene variant A/C;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.030 1.000 3 2014 2018