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: 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: rs1165151
rs1165151 		0.925 0.120 6 25821388 intron variant T/A;G snv
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.800 1.000 2 2009 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: rs1165178
rs1165178 		0.925 0.120 6 25827288 intron variant A/G snv 0.65
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.800 1.000 2 2009 2019
dbSNP: rs1165209
rs1165209 		0.925 0.120 6 25801091 intron variant G/A snv 0.66
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.800 1.000 2 2009 2015
dbSNP: rs11754288
rs11754288 		0.925 0.120 6 25776721 missense variant G/A snv 0.36 0.32
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.800 1.000 2 2009 2011
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: rs10498728
rs10498728 		0.925 0.120 6 25751092 upstream gene variant T/A snv 0.21
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs10498730
rs10498730 		0.925 0.120 6 25811841 intron variant A/G snv 3.7E-02
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2009 2009
dbSNP: rs1141034
rs1141034 		0.925 0.120 6 25780104 3 prime UTR variant C/T snv 0.26
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs1165151
rs1165151 		0.925 0.120 6 25821388 intron variant T/A;G snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
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: rs1165153
rs1165153 		0.925 0.120 6 25817561 intron variant A/G;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs1165153
rs1165153 		0.925 0.120 6 25817561 intron variant A/G;T snv
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2009 2009
dbSNP: rs1165176
rs1165176 		0.925 0.120 6 25830070 intron variant A/G snv 0.65
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2009 2009
dbSNP: rs1165176
rs1165176 		0.925 0.120 6 25830070 intron variant A/G snv 0.65
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs1165177
rs1165177 		0.925 0.120 6 25829431 intron variant T/A snv 0.65
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2009 2009
dbSNP: rs1165177
rs1165177 		0.925 0.120 6 25829431 intron variant T/A snv 0.65
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs1165178
rs1165178 		0.925 0.120 6 25827288 intron variant A/G snv 0.65
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs1165196
rs1165196 		0.882 0.200 6 25812922 missense variant G/A snv 0.62 0.66
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs1165209
rs1165209 		0.925 0.120 6 25801091 intron variant G/A snv 0.66
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012