SLC2A1, solute carrier family 2 member 1, 6513

N. diseases: 687; N. variants: 76
Disease: DYSTONIA 18 (disorder) ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121909739
rs121909739 		0.925 0.040 1 42929242 missense variant C/T snv
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		Nervous System Diseases 0.810 1.000 9 2003 2011
dbSNP: rs121909740
rs121909740 		0.925 0.120 1 42929637 missense variant C/A;T snv 4.0E-06
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		Nervous System Diseases 0.800 1.000 9 2003 2011
dbSNP: rs202060209
rs202060209 		0.925 0.040 1 42931047 missense variant G/A;T snv 2.4E-05
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		Nervous System Diseases 0.800 1.000 9 2003 2011
dbSNP: rs267607060
rs267607060 		1.000 0.040 1 42930858 missense variant GA/AT mnv
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		Nervous System Diseases 0.800 1.000 9 2003 2011
dbSNP: rs267607061
rs267607061 		0.925 0.040 1 42930865 missense variant G/A;T snv 7.0E-06
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		Nervous System Diseases 0.800 1.000 9 2003 2011
dbSNP: rs80359818
rs80359818 		0.776 0.360 1 42930766 missense variant G/A snv
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		Nervous System Diseases 0.800 0
dbSNP: rs1553155986
rs1553155986 		0.827 0.280 1 42929008 missense variant C/T snv
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		Nervous System Diseases 0.700 1.000 9 2003 2011
dbSNP: rs796053272
rs796053272 		0.827 0.360 1 42943323 splice acceptor variant T/C snv
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs80359826
rs80359826 		0.807 0.120 1 42929018 stop gained G/A;T snv 4.0E-06
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		Nervous System Diseases 0.700 1.000 1 2000 2000
dbSNP: rs1057520545
rs1057520545 		1.000 0.040 1 42930649 missense variant C/T snv
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		Nervous System Diseases 0.700 0
dbSNP: rs13306758
rs13306758 		0.807 0.360 1 42927148 missense variant G/A;T snv 2.8E-03
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		Nervous System Diseases 0.700 0
dbSNP: rs1553156047
rs1553156047 		1.000 0.040 1 42929605 inframe deletion AGACAGCTGCTG/- del
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		Nervous System Diseases 0.700 0
dbSNP: rs1557646867
rs1557646867 		0.827 0.360 1 42931159 frameshift variant -/T delins
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		Nervous System Diseases 0.700 0
dbSNP: rs794727642
rs794727642 		1.000 0.040 1 42930684 missense variant C/A;G;T snv
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		Nervous System Diseases 0.700 0
dbSNP: rs794727870
rs794727870 		0.925 0.160 1 42929244 missense variant G/A;T snv
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		Nervous System Diseases 0.700 0
dbSNP: rs796053248
rs796053248 		0.807 0.360 1 42929885 missense variant G/A;T snv 4.0E-06
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		Nervous System Diseases 0.700 0
dbSNP: rs796053253
rs796053253 		0.925 0.040 1 42929211 missense variant G/A snv
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		Nervous System Diseases 0.700 0
dbSNP: rs80359812
rs80359812 		1.000 0.040 1 42943239 missense variant T/A snv
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		Nervous System Diseases 0.700 0
dbSNP: rs80359825
rs80359825 		0.790 0.360 1 42929009 missense variant G/A snv
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		Nervous System Diseases 0.700 0