Source: BEFREE

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: rs1014290
rs1014290
SLC2A9 ; LOC105374476
0.827 0.280 4 10000237 intron variant G/A snv 0.72
CUI: C0018099
Disease: Gout
Gout 		0.810 1.000 1 2010 2019
dbSNP: rs121908321
rs121908321
SLC2A9
0.925 0.200 4 9890687 missense variant G/A;T snv 2.1E-04; 8.0E-06
CUI: C2677549
Disease: Hypouricemia, Renal, 2
Hypouricemia, Renal, 2 		0.710 1.000 1 2008 2014
dbSNP: rs16890979
rs16890979
SLC2A9
0.827 0.200 4 9920543 missense variant C/T snv 0.24 0.29
CUI: C0018099
Disease: Gout
Gout 		0.710 1.000 1 2008 2016
dbSNP: rs121908321
rs121908321
SLC2A9
0.925 0.200 4 9890687 missense variant G/A;T snv 2.1E-04; 8.0E-06
CUI: C0221333
Disease: Hypouricemia
Hypouricemia 		0.020 1.000 2 2011 2014
dbSNP: rs3733591
rs3733591
SLC2A9
0.925 0.040 4 9920506 missense variant C/T snv 0.25 0.17
CUI: C0744466
Disease: gout tophaceous
gout tophaceous 		0.020 1.000 2 2010 2011
dbSNP: rs1014290
rs1014290
SLC2A9 ; LOC105374476
0.827 0.280 4 10000237 intron variant G/A snv 0.72
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 1.000 1 2017 2017
dbSNP: rs1014290
rs1014290
SLC2A9 ; LOC105374476
0.827 0.280 4 10000237 intron variant G/A snv 0.72
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		0.010 1.000 1 2010 2010
dbSNP: rs1014290
rs1014290
SLC2A9 ; LOC105374476
0.827 0.280 4 10000237 intron variant G/A snv 0.72
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		0.010 1.000 1 2010 2010
dbSNP: rs113828117
rs113828117
DRD5 ; SLC2A9
1.000 0.040 4 9783008 missense variant G/A snv 7.0E-06
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.010 1.000 1 2016 2016
dbSNP: rs11722228
rs11722228
SLC2A9
0.851 0.160 4 9914117 intron variant C/T snv 0.32
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.010 1.000 1 2015 2015
dbSNP: rs11722228
rs11722228
SLC2A9
0.851 0.160 4 9914117 intron variant C/T snv 0.32
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.010 1.000 1 2013 2013
dbSNP: rs11942223
rs11942223
SLC2A9
0.882 0.160 4 9961141 intron variant T/C snv 0.28
CUI: C0221248
Disease: Tophus
Tophus 		0.010 < 0.001 1 2017 2017
dbSNP: rs121908321
rs121908321
SLC2A9
0.925 0.200 4 9890687 missense variant G/A;T snv 2.1E-04; 8.0E-06
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.010 1.000 1 2014 2014
dbSNP: rs121908322
rs121908322
SLC2A9
1.000 0.160 4 9980681 missense variant G/A snv 3.2E-05 2.1E-05
CUI: C0221333
Disease: Hypouricemia
Hypouricemia 		0.010 1.000 1 2014 2014
dbSNP: rs13124007
rs13124007
SLC2A9
1.000 0.120 4 10042307 intron variant G/A;C snv
CUI: C0018099
Disease: Gout
Gout 		0.010 1.000 1 2012 2012
dbSNP: rs145497708
rs145497708
DRD5 ; SLC2A9
1.000 0.040 4 9783034 stop gained C/A;T snv 1.9E-03; 4.0E-06
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 1.000 1 1995 1995
dbSNP: rs1470756514
rs1470756514
SLC2A9
1.000 0.040 4 9941975 missense variant A/G snv 4.0E-06
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.010 1.000 1 2014 2014
dbSNP: rs151227402
rs151227402
DRD5 ; SLC2A9
4 9783126 missense variant A/G snv 8.0E-05 3.1E-04
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2019 2019
dbSNP: rs151227402
rs151227402
DRD5 ; SLC2A9
4 9783126 missense variant A/G snv 8.0E-05 3.1E-04
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2019 2019
dbSNP: rs151227402
rs151227402
DRD5 ; SLC2A9
4 9783126 missense variant A/G snv 8.0E-05 3.1E-04
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2019 2019
dbSNP: rs16890979
rs16890979
SLC2A9
0.827 0.200 4 9920543 missense variant C/T snv 0.24 0.29
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		0.010 1.000 1 2018 2018
dbSNP: rs16890979
rs16890979
SLC2A9
0.827 0.200 4 9920543 missense variant C/T snv 0.24 0.29
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.010 1.000 1 2014 2014
dbSNP: rs16890979
rs16890979
SLC2A9
0.827 0.200 4 9920543 missense variant C/T snv 0.24 0.29
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		0.010 1.000 1 2018 2018
dbSNP: rs3733591
rs3733591
SLC2A9
0.925 0.040 4 9920506 missense variant C/T snv 0.25 0.17
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.010 1.000 1 2014 2014
dbSNP: rs3775948
rs3775948
SLC2A9 ; LOC105374476
0.882 0.160 4 9993558 intron variant G/A;C snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2016 2016