SLC23A1, solute carrier family 23 member 1, 9963

N. diseases: 22; N. variants: 3
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs33972313
rs33972313
Entrez Id: 9963
Gene Symbol: SLC23A1
SLC23A1
CUI: C0858617
Disease:
Posterior subcapsular cataract
0.010 GeneticVariation BEFREE rs33972313 was associated with cortical (OR 2.16; 95% CI 1.34 to 3.49, p=0.002) and PSC (OR 1.68; 95% CI 1.06 to 2.65, p=0.03) but not with nuclear cataract. 30442817 2019
dbSNP: rs33972313
rs33972313
Entrez Id: 9963
Gene Symbol: SLC23A1
SLC23A1
CUI: C0086543
Disease:
Cataract
0.010 GeneticVariation BEFREE In analyses of pure cataracts, associations were found only between rs33972313 and pure cortical cataracts (OR 2.29; 95% CI 1.12 to 4.65, p=0.03) and with a standardised cortical opacity score. 30442817 2019
dbSNP: rs33972313
rs33972313
Entrez Id: 9963
Gene Symbol: SLC23A1
SLC23A1
CUI: C0521707
Disease:
Bilateral cataracts (disorder)
0.010 GeneticVariation BEFREE In analyses of pure cataracts, associations were found only between rs33972313 and pure cortical cataracts (OR 2.29; 95% CI 1.12 to 4.65, p=0.03) and with a standardised cortical opacity score. 30442817 2019
dbSNP: rs6596473
rs6596473
Entrez Id: 9963
Gene Symbol: SLC23A1
SLC23A1
CUI: C0086543
Disease:
Cataract
0.010 GeneticVariation BEFREE There was no association with rs6596473 and any cataract outcomes. 30442817 2019
dbSNP: rs33972313
rs33972313
Entrez Id: 9963
Gene Symbol: SLC23A1
SLC23A1
CUI: C0740394
Disease:
Hyperuricemia
0.010 GeneticVariation BEFREE We measured plasma urate and genotyped for the SLC23A1 rs33972313 vitamin C variant in 106 147 individuals from the Copenhagen General Population Study, of which 24 099 had hyperuricaemia. 29939348 2018
dbSNP: rs33972313
rs33972313
Entrez Id: 9963
Gene Symbol: SLC23A1
SLC23A1
CUI: C0151744
Disease:
Myocardial Ischemia
0.010 GeneticVariation BEFREE The SLC23A1 rs33972313 G allele was associated with 11% higher plasma vitamin C. The multivariable adjusted HRs for highest compared with lowest fruit and vegetable intakes were 0.87 (95% CI: 0.78, 0.97; P = 0.01) for ischemic heart disease and 0.80 (95% CI: 0.73, 0.88; P < 0.001) for all-cause mortality. 25948669 2015
dbSNP: rs10063949
rs10063949
Entrez Id: 9963
Gene Symbol: SLC23A1
SLC23A1
CUI: C0009324
Disease:
Ulcerative Colitis
0.010 GeneticVariation BEFREE A strong linkage disequilibrium (LD) was observed across the SLC23A1 region (variation rs6596473 with rs10063949) for CD and UC (D' = 0.94 and 0.96, respectively). 24284447 2014
dbSNP: rs10063949
rs10063949
Entrez Id: 9963
Gene Symbol: SLC23A1
SLC23A1
CUI: C0010346
Disease:
Crohn Disease
0.010 GeneticVariation BEFREE A genetic variant (rs10063949-G) in the SLC23A1 ascorbate transporter locus was identified and is associated with an increased risk of CD in a white Canadian IBD cohort. 24284447 2014
dbSNP: rs10063949
rs10063949
Entrez Id: 9963
Gene Symbol: SLC23A1
SLC23A1
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
0.010 GeneticVariation BEFREE A genetic variant (rs10063949-G) in the SLC23A1 ascorbate transporter locus was identified and is associated with an increased risk of CD in a white Canadian IBD cohort. 24284447 2014
dbSNP: rs33972313
rs33972313
Entrez Id: 9963
Gene Symbol: SLC23A1
SLC23A1
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
0.010 GeneticVariation BEFREE Genomic DNA samples from patients with CD (n = 162) and UC (n = 149) from the Manitoba IBD Cohort Study and ethnically matched controls (n = 142) were genotyped for 3 SLC23A1 polymorphisms (rs6596473, rs33972313, and rs10063949) by using TaqMan assays. 24284447 2014
dbSNP: rs33972313
rs33972313
Entrez Id: 9963
Gene Symbol: SLC23A1
SLC23A1
CUI: C0010346
Disease:
Crohn Disease
0.010 GeneticVariation BEFREE Genomic DNA samples from patients with CD (n = 162) and UC (n = 149) from the Manitoba IBD Cohort Study and ethnically matched controls (n = 142) were genotyped for 3 SLC23A1 polymorphisms (rs6596473, rs33972313, and rs10063949) by using TaqMan assays. 24284447 2014
dbSNP: rs33972313
rs33972313
Entrez Id: 9963
Gene Symbol: SLC23A1
SLC23A1
CUI: C0009324
Disease:
Ulcerative Colitis
0.010 GeneticVariation BEFREE Genomic DNA samples from patients with CD (n = 162) and UC (n = 149) from the Manitoba IBD Cohort Study and ethnically matched controls (n = 142) were genotyped for 3 SLC23A1 polymorphisms (rs6596473, rs33972313, and rs10063949) by using TaqMan assays. 24284447 2014
dbSNP: rs6596473
rs6596473
Entrez Id: 9963
Gene Symbol: SLC23A1
SLC23A1
CUI: C0001342
Disease:
Acute periodontitis
0.010 GeneticVariation BEFREE SLC23A1 polymorphism rs6596473 in the vitamin C transporter SVCT1 is associated with aggressive periodontitis. 24708273 2014
dbSNP: rs6596473
rs6596473
Entrez Id: 9963
Gene Symbol: SLC23A1
SLC23A1
CUI: C0266929
Disease:
Chronic Periodontitis
0.010 GeneticVariation BEFREE Stage 3: RA of rs6596473 showed no significant association with severe CP. 24708273 2014
dbSNP: rs6596473
rs6596473
Entrez Id: 9963
Gene Symbol: SLC23A1
SLC23A1
CUI: C0031106
Disease:
Aggressive Periodontitis
0.010 GeneticVariation BEFREE SLC23A1 polymorphism rs6596473 in the vitamin C transporter SVCT1 is associated with aggressive periodontitis. 24708273 2014
dbSNP: rs6596473
rs6596473
Entrez Id: 9963
Gene Symbol: SLC23A1
SLC23A1
CUI: C0009324
Disease:
Ulcerative Colitis
0.010 GeneticVariation BEFREE A strong linkage disequilibrium (LD) was observed across the SLC23A1 region (variation rs6596473 with rs10063949) for CD and UC (D' = 0.94 and 0.96, respectively). 24284447 2014
dbSNP: rs6596473
rs6596473
Entrez Id: 9963
Gene Symbol: SLC23A1
SLC23A1
CUI: C0010346
Disease:
Crohn Disease
0.010 GeneticVariation BEFREE A strong linkage disequilibrium (LD) was observed across the SLC23A1 region (variation rs6596473 with rs10063949) for CD and UC (D' = 0.94 and 0.96, respectively). 24284447 2014
dbSNP: rs6596473
rs6596473
Entrez Id: 9963
Gene Symbol: SLC23A1
SLC23A1
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
0.010 GeneticVariation BEFREE Genomic DNA samples from patients with CD (n = 162) and UC (n = 149) from the Manitoba IBD Cohort Study and ethnically matched controls (n = 142) were genotyped for 3 SLC23A1 polymorphisms (rs6596473, rs33972313, and rs10063949) by using TaqMan assays. 24284447 2014
dbSNP: rs10063949
rs10063949
Entrez Id: 9963
Gene Symbol: SLC23A1
SLC23A1
CUI: C0339573
Disease:
Glaucoma, Primary Open Angle
0.010 GeneticVariation BEFREE The rs10063949 SNP in SLC23A1 was not associated with either plasma vitamin C concentrations or POAG risk. 22171153 2011