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: 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: rs1443465532
rs1443465532
0.882 0.080 6 43774362 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.030 1.000 3 2002 2011
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
dbSNP: rs2010963
rs2010963
0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.030 1.000 3 2010 2018
dbSNP: rs2010963
rs2010963
0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.030 1.000 3 2014 2020
dbSNP: rs2010963
rs2010963
0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.030 1.000 3 2013 2019
dbSNP: rs2010963
rs2010963
0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68
Conventional (Clear Cell) Renal Cell Carcinoma
0.030 0.667 3 2014 2017
dbSNP: rs2010963
rs2010963
0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68
CUI: C0017638
Disease: Glioma
Glioma
0.030 1.000 3 2011 2018
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: rs3025039
rs3025039
0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.030 0.667 3 2013 2018
dbSNP: rs3025039
rs3025039
0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.030 1.000 3 2009 2016
dbSNP: rs3025039
rs3025039
0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.030 1.000 3 2013 2016
dbSNP: rs3025039
rs3025039
0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13
Conventional (Clear Cell) Renal Cell Carcinoma
0.030 1.000 3 2013 2017
dbSNP: rs3025039
rs3025039
0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.030 1.000 3 2009 2016
dbSNP: rs3025039
rs3025039
0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.030 1.000 3 2013 2017
dbSNP: rs3025039
rs3025039
0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy
0.030 1.000 3 2014 2017