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: rs17342717
rs17342717 		6 25821542 intron variant C/T snv 6.1E-02
CUI: C0373607
Disease: Ferritin measurement
Ferritin measurement 		0.700 1.000 2 2011 2011
dbSNP: rs17342717
rs17342717 		6 25821542 intron variant C/T snv 6.1E-02
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 2 2010 2012
dbSNP: rs17342717
rs17342717 		6 25821542 intron variant C/T snv 6.1E-02
CUI: C0696113
Disease: Serum ferritin measurement
Serum ferritin measurement 		0.700 1.000 2 2011 2011
dbSNP: rs17342717
rs17342717 		6 25821542 intron variant C/T snv 6.1E-02
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.800 1.000 2 2010 2012
dbSNP: rs12212049
rs12212049 		6 25758838 intron variant G/T snv 0.32
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs17342717
rs17342717 		6 25821542 intron variant C/T snv 6.1E-02
CUI: C0337439
Disease: Iron measurement
Iron measurement 		0.700 1.000 1 2011 2011
dbSNP: rs17342717
rs17342717 		6 25821542 intron variant C/T snv 6.1E-02
CUI: C0428578
Disease: Iron level result
Iron level result 		0.700 1.000 1 2011 2011
dbSNP: rs17342717
rs17342717 		6 25821542 intron variant C/T snv 6.1E-02
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2012 2012
dbSNP: rs17342717
rs17342717 		6 25821542 intron variant C/T snv 6.1E-02
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2009 2009
dbSNP: rs6924948
rs6924948 		6 25735738 upstream gene variant A/G snv 7.8E-02
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs9467583
rs9467583 		6 25726393 synonymous variant C/T snv 0.23 0.26
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs9467590
rs9467590 		6 25740882 intergenic variant C/A;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs9467603
rs9467603 		6 25803484 intron variant A/G snv 7.0E-02
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs1165196
rs1165196 		0.882 0.200 6 25812922 missense variant G/A snv 0.62 0.66
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.800 1.000 4 2009 2018
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: rs1165196
rs1165196 		0.882 0.200 6 25812922 missense variant G/A snv 0.62 0.66
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: rs1165196
rs1165196 		0.882 0.200 6 25812922 missense variant G/A snv 0.62 0.66
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: rs1165215
rs1165215 		0.882 0.200 6 25798704 3 prime UTR variant G/A snv 0.66
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: rs1165215
rs1165215 		0.882 0.200 6 25798704 3 prime UTR variant G/A snv 0.66
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: rs13197601
rs13197601 		0.882 0.200 6 25785707 intron variant G/A snv 0.32
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: rs13197601
rs13197601 		0.882 0.200 6 25785707 intron variant G/A snv 0.32
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: rs2328893
rs2328893 		0.882 0.160 6 25770011 intron variant A/G snv 0.57
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: rs2328893
rs2328893 		0.882 0.160 6 25770011 intron variant A/G snv 0.57
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: rs2762353
rs2762353 		0.882 0.200 6 25794203 intron variant A/G snv 0.66
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: rs2762353
rs2762353 		0.882 0.200 6 25794203 intron variant A/G snv 0.66
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