SLC17A1, solute carrier family 17 member 1, 6568

N. diseases: 23; N. variants: 164
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: rs1937127
rs1937127 		0.925 0.120 6 25769644 intron variant A/C snv 0.29
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1937127
rs1937127 		0.925 0.120 6 25769644 intron variant A/C snv 0.29
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs3734526
rs3734526 		1.000 0.040 6 25779508 3 prime UTR variant A/C snv 6.1E-02
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.700 1.000 1 2012 2012
dbSNP: rs4360128
rs4360128 		0.925 0.120 6 25734330 upstream gene variant A/C;G snv
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs4360128
rs4360128 		0.925 0.120 6 25734330 upstream gene variant A/C;G snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs4360128
rs4360128 		0.925 0.120 6 25734330 upstream gene variant A/C;G snv
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs4711096
rs4711096 		0.925 0.120 6 25726826 5 prime UTR variant A/C;G snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs4711096
rs4711096 		0.925 0.120 6 25726826 5 prime UTR variant A/C;G snv
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs4711096
rs4711096 		0.925 0.120 6 25726826 5 prime UTR variant A/C;G snv
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs4712969
rs4712969 		0.925 0.120 6 25763964 intron variant A/C;G snv
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs4712969
rs4712969 		0.925 0.120 6 25763964 intron variant A/C;G snv
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs4712972
rs4712972 		0.882 0.160 6 25771819 intron variant A/C;G snv
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs4712972
rs4712972 		0.882 0.160 6 25771819 intron variant A/C;G snv
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.800 1.000 1 2011 2011
dbSNP: rs4712972
rs4712972 		0.882 0.160 6 25771819 intron variant A/C;G snv
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1165152
rs1165152 		0.925 0.120 6 25818538 intron variant A/C;G;T snv
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 2 2010 2013
dbSNP: rs1165152
rs1165152 		0.925 0.120 6 25818538 intron variant A/C;G;T snv
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.800 1.000 2 2009 2015
dbSNP: rs1165152
rs1165152 		0.925 0.120 6 25818538 intron variant A/C;G;T snv
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 2 2010 2013
dbSNP: rs1165152
rs1165152 		0.925 0.120 6 25818538 intron variant A/C;G;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs4711095
rs4711095 		0.925 0.120 6 25726546 upstream gene variant A/C;G;T snv 0.35; 5.5E-05
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs4711095
rs4711095 		0.925 0.120 6 25726546 upstream gene variant A/C;G;T snv 0.35; 5.5E-05
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs4711095
rs4711095 		0.925 0.120 6 25726546 upstream gene variant A/C;G;T snv 0.35; 5.5E-05
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs1165176
rs1165176 		0.925 0.120 6 25830070 intron variant A/G snv 0.65
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.800 1.000 3 2010 2017
dbSNP: rs1165176
rs1165176 		0.925 0.120 6 25830070 intron variant A/G snv 0.65
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.800 1.000 3 2010 2017
dbSNP: rs2762353
rs2762353 		0.882 0.200 6 25794203 intron variant A/G snv 0.66
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.800 1.000 3 2009 2019
dbSNP: rs1165178
rs1165178 		0.925 0.120 6 25827288 intron variant A/G snv 0.65
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 2 2010 2013