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: rs121909739
rs121909739
SLC2A1
0.925 0.040 1 42929242 missense variant C/T snv
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		0.810 1.000 1 2003 2011
dbSNP: rs80359825
rs80359825
SLC2A1
0.790 0.360 1 42929009 missense variant G/A snv
CUI: C1847501
Disease: Glut1 Deficiency Syndrome
Glut1 Deficiency Syndrome 		0.710 1.000 1 2011 2011
dbSNP: rs841853
rs841853
SLC2A1
0.882 0.200 1 42935767 intron variant A/C snv 0.66
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.030 1.000 3 2013 2019
dbSNP: rs841853
rs841853
SLC2A1
0.882 0.200 1 42935767 intron variant A/C snv 0.66
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		0.020 1.000 2 2012 2018
dbSNP: rs1345986424
rs1345986424
SLC2A1
0.851 0.160 1 42943291 stop gained C/A;T snv
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
Congenital hypoplasia of adrenal gland 		0.010 1.000 1 2015 2015
dbSNP: rs1345986424
rs1345986424
SLC2A1
0.851 0.160 1 42943291 stop gained C/A;T snv
CUI: C0270862
Disease: Hemiplegic migraine
Hemiplegic migraine 		0.010 1.000 1 2015 2015
dbSNP: rs1345986424
rs1345986424
SLC2A1
0.851 0.160 1 42943291 stop gained C/A;T snv
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		0.010 1.000 1 2015 2015
dbSNP: rs1385129
rs1385129
SLC2A1
1.000 1 42943295 synonymous variant G/A;C snv 0.24; 4.0E-06
CUI: C1141957
Disease: HIV disease progression
HIV disease progression 		0.010 1.000 1 2018 2018
dbSNP: rs2229682
rs2229682
SLC2A1
1.000 0.080 1 42929964 synonymous variant C/G;T snv 4.0E-06; 0.18
CUI: C0025312
Disease: Meningomyelocele
Meningomyelocele 		0.010 1.000 1 2013 2013
dbSNP: rs3729548
rs3729548
SLC2A1
1.000 0.080 1 42934681 intron variant C/T snv 0.32
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2018 2018
dbSNP: rs3729548
rs3729548
SLC2A1
1.000 0.080 1 42934681 intron variant C/T snv 0.32
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.010 1.000 1 2018 2018
dbSNP: rs3820589
rs3820589
SLC2A1 ; SLC2A1-AS1
0.925 0.200 1 42960373 intron variant A/T snv 8.3E-02
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		0.010 1.000 1 2015 2015
dbSNP: rs3820589
rs3820589
SLC2A1 ; SLC2A1-AS1
0.925 0.200 1 42960373 intron variant A/T snv 8.3E-02
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.010 1.000 1 2015 2015
dbSNP: rs776095655
rs776095655
SLC2A1
0.827 0.160 1 42927684 missense variant C/A;T snv 4.0E-06
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		0.010 1.000 1 2011 2011
dbSNP: rs80359816
rs80359816
SLC2A1
0.882 0.080 1 42930765 missense variant C/A;T snv
CUI: C1847501
Disease: Glut1 Deficiency Syndrome
Glut1 Deficiency Syndrome 		0.010 1.000 1 2001 2001
dbSNP: rs80359818
rs80359818
SLC2A1
0.776 0.360 1 42930766 missense variant G/A snv
CUI: C0393703
Disease: Myoclonic Absence Epilepsy
Myoclonic Absence Epilepsy 		0.010 1.000 1 2011 2011
dbSNP: rs80359818
rs80359818
SLC2A1
0.776 0.360 1 42930766 missense variant G/A snv
CUI: C4023512
Disease: Myoclonic absences
Myoclonic absences 		0.010 1.000 1 2011 2011
dbSNP: rs80359818
rs80359818
SLC2A1
0.776 0.360 1 42930766 missense variant G/A snv
CUI: C1847501
Disease: Glut1 Deficiency Syndrome
Glut1 Deficiency Syndrome 		0.010 1.000 1 2011 2011
dbSNP: rs80359823
rs80359823
SLC2A1
0.882 0.080 1 42929298 missense variant G/A snv
CUI: C1847501
Disease: Glut1 Deficiency Syndrome
Glut1 Deficiency Syndrome 		0.010 1.000 1 2011 2011
dbSNP: rs80359823
rs80359823
SLC2A1
0.882 0.080 1 42929298 missense variant G/A snv
CUI: C0162429
Disease: Malnutrition
Malnutrition 		0.010 1.000 1 2008 2008
dbSNP: rs80359825
rs80359825
SLC2A1
0.790 0.360 1 42929009 missense variant G/A snv
CUI: C0162429
Disease: Malnutrition
Malnutrition 		0.010 1.000 1 2015 2015
dbSNP: rs80359826
rs80359826
SLC2A1
0.807 0.120 1 42929018 stop gained G/A;T snv 4.0E-06
CUI: C0162429
Disease: Malnutrition
Malnutrition 		0.010 1.000 1 2015 2015
dbSNP: rs841847
rs841847
SLC2A1
1.000 0.080 1 42937037 intron variant T/C snv 0.81
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2019 2019
dbSNP: rs841853
rs841853
SLC2A1
0.882 0.200 1 42935767 intron variant A/C snv 0.66
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.010 1.000 1 2018 2018
dbSNP: rs841853
rs841853
SLC2A1
0.882 0.200 1 42935767 intron variant A/C snv 0.66
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.010 1.000 1 2012 2012