SLC20A2, solute carrier family 20 member 2, 6575

N. diseases: 104; N. variants: 36
Disease: Idiopathic basal ganglia calcification 1 ×
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: rs387906652
rs387906652 		0.925 0.080 8 42417960 missense variant G/A;C snv 4.0E-06
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 8 2005 2014
dbSNP: rs387906653
rs387906653 		0.882 0.120 8 42428829 stop gained C/A;T snv
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 8 2005 2014
dbSNP: rs387906654
rs387906654 		1.000 0.080 8 42428768 missense variant G/A snv
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 8 2005 2014
dbSNP: rs1357615935
rs1357615935 		1.000 0.080 8 42437211 missense variant G/C snv
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 8 2005 2014
dbSNP: rs1388992742
rs1388992742 		1.000 0.080 8 42428841 missense variant C/T snv
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 8 2005 2014
dbSNP: rs1554561099
rs1554561099 		1.000 0.080 8 42472309 missense variant C/T snv
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 8 2005 2014
dbSNP: rs200010919
rs200010919 		1.000 0.080 8 42437367 missense variant C/T snv 1.2E-05 2.8E-05
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 8 2005 2014
dbSNP: rs201836672
rs201836672 		1.000 0.080 8 42472360 missense variant T/A;G snv 4.0E-06 7.0E-06
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 8 2005 2014
dbSNP: rs748252183
rs748252183 		1.000 0.080 8 42459928 missense variant T/C snv 8.0E-06 1.4E-05
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 8 2005 2014
dbSNP: rs763252801
rs763252801 		1.000 0.080 8 42430070 missense variant G/A snv 1.2E-05
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 8 2005 2014
dbSNP: rs775911275
rs775911275 		1.000 0.080 8 42465863 missense variant G/A snv 7.0E-06
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 8 2005 2014
dbSNP: rs1563431044
rs1563431044 		1.000 0.080 8 42417968 splice acceptor variant C/T snv
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1563452322
rs1563452322 		1.000 0.080 8 42436991 frameshift variant AC/- delins
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1563452941
rs1563452941 		0.882 0.120 8 42437137 stop gained C/A snv
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1563453866
rs1563453866 		1.000 0.080 8 42437316 missense variant T/G snv
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1563490467
rs1563490467 		1.000 0.080 8 42465904 frameshift variant C/- delins
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1563497714
rs1563497714 		1.000 0.080 8 42472203 missense variant C/T snv
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1563497719
rs1563497719 		1.000 0.080 8 42472204 missense variant C/T snv
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1563498184
rs1563498184 		1.000 0.080 8 42472370 frameshift variant C/- del
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs398122395
rs398122395 		1.000 0.080 8 42463012 frameshift variant A/- delins
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs398122396
rs398122396 		1.000 0.080 8 42417931 frameshift variant GGAG/- delins
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs398122397
rs398122397 		1.000 0.080 8 42459925 frameshift variant CA/- delins
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs751093906
rs751093906 		0.882 0.200 8 42472255 stop gained G/A;C snv 4.0E-06
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0