SLC20A2, solute carrier family 20 member 2, 6575

N. diseases: 104; N. variants: 36
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: rs1901282
rs1901282 		8 42537799 non coding transcript exon variant C/G;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.800 1.000 2 2012 2018
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: rs12542076
rs12542076 		8 42503075 intron variant C/G snv 0.32
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs2272685
rs2272685 		8 42496584 intron variant C/T snv 0.32
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs2923427
rs2923427 		8 42530605 intron variant A/C snv 0.55
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2016 2016
dbSNP: rs2923428
rs2923428 		8 42533158 intron variant T/C;G snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs2974341
rs2974341 		8 42543159 intron variant T/A;C snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs2978456
rs2978456 		8 42467247 intron variant T/C snv 0.45
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs4361746
rs4361746 		8 42497523 intron variant C/T snv 0.32
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs4368963
rs4368963 		8 42486720 intron variant G/T snv 0.31
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2018 2018
dbSNP: rs4737048
rs4737048 		1.000 0.040 8 42501517 intron variant G/T snv 0.32
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs4737048
rs4737048 		1.000 0.040 8 42501517 intron variant G/T snv 0.32
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs6988165
rs6988165 		8 42493658 intron variant C/G snv 0.37
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs7818789
rs7818789 		1.000 0.040 8 42496739 intron variant C/T snv 0.36
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs7818789
rs7818789 		1.000 0.040 8 42496739 intron variant C/T snv 0.36
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017