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: rs2010963
rs2010963
0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.060 0.833 6 2010 2018
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: rs2010963
rs2010963
0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.050 0.800 5 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: rs2010963
rs2010963
0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68
Diabetes Mellitus, Non-Insulin-Dependent
0.040 1.000 4 2015 2018
dbSNP: rs2010963
rs2010963
0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.040 0.750 4 2005 2013
dbSNP: rs2010963
rs2010963
0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy
0.040 0.750 4 2013 2017
dbSNP: rs2146323
rs2146323
0.752 0.480 6 43777358 non coding transcript exon variant C/A snv 0.31
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy
0.040 1.000 4 2011 2018
dbSNP: rs3025039
rs3025039
0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.040 0.750 4 2008 2020
dbSNP: rs3025039
rs3025039
0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.040 1.000 4 2016 2018
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: rs1570360
rs1570360
0.641 0.680 6 43770093 upstream gene variant A/G snv 0.76
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.030 1.000 3 2016 2018
dbSNP: rs2010963
rs2010963
0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.030 1.000 3 2015 2018