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: 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: rs28412066
rs28412066 		1.000 0.080 6 25775342 intron variant T/A;G snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2017 2017
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: rs1183201
rs1183201 		0.925 0.120 6 25823216 intron variant A/T snv 0.65
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.710 1.000 3 2010 2015
dbSNP: rs13200784
rs13200784 		0.925 0.120 6 25829405 intron variant A/T snv 0.27
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 3 2010 2013
dbSNP: rs13200784
rs13200784 		0.925 0.120 6 25829405 intron variant A/T snv 0.27
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 3 2010 2013
dbSNP: rs1408268
rs1408268 		0.925 0.120 6 25826758 intron variant T/A snv 0.26
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 3 2010 2013
dbSNP: rs1408268
rs1408268 		0.925 0.120 6 25826758 intron variant T/A snv 0.26
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 3 2010 2013
dbSNP: rs6456703
rs6456703 		0.925 0.120 6 25825891 intron variant C/T snv 0.26
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 3 2010 2013
dbSNP: rs6456703
rs6456703 		0.925 0.120 6 25825891 intron variant C/T snv 0.26
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 3 2010 2013
dbSNP: rs10214468
rs10214468 		0.925 0.120 6 25789162 intron variant T/A snv 0.19
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