SLC5A2, solute carrier family 5 member 2, 6524

N. diseases: 214; N. variants: 20
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61742739
rs61742739
Entrez Id: 6524;64755
Gene Symbol: SLC5A2;C16orf58
SLC5A2;C16orf58
CUI: C0017980
Disease:
Glycosuria, Renal 		0.800 GeneticVariation UNIPROT Novel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuria. 14614622 2004
dbSNP: rs61742739
rs61742739
Entrez Id: 6524;64755
Gene Symbol: SLC5A2;C16orf58
SLC5A2;C16orf58
CUI: C0017980
Disease:
Glycosuria, Renal 		G 0.800 CausalMutation CLINVAR
dbSNP: rs141627694
rs141627694
Entrez Id: 6524
Gene Symbol: SLC5A2
SLC5A2
CUI: C0017979
Disease:
Glycosuria 		C 0.700 GeneticVariation GWASCAT Sequence variants associating with urinary biomarkers. 30476138 2019
dbSNP: rs200228142
rs200228142
Entrez Id: 6524
Gene Symbol: SLC5A2
SLC5A2
CUI: C0017980
Disease:
Glycosuria, Renal 		A 0.700 CausalMutation CLINVAR Twenty-one additional cases of familial renal glucosuria: absence of genetic heterogeneity, high prevalence of private mutations and further evidence of volume depletion. 18622023 2008
dbSNP: rs200228142
rs200228142
Entrez Id: 6524
Gene Symbol: SLC5A2
SLC5A2
CUI: C0017980
Disease:
Glycosuria, Renal 		A 0.700 CausalMutation CLINVAR Molecular analysis of the SGLT2 gene in patients with renal glucosuria. 14569097 2003
dbSNP: rs121918621
rs121918621
Entrez Id: 6524
Gene Symbol: SLC5A2
SLC5A2
CUI: C0017980
Disease:
Glycosuria, Renal 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1309307492
rs1309307492
Entrez Id: 6524;64755
Gene Symbol: SLC5A2;C16orf58
SLC5A2;C16orf58
CUI: C0017980
Disease:
Glycosuria, Renal 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1378076282
rs1378076282
Entrez Id: 6524
Gene Symbol: SLC5A2
SLC5A2
CUI: C0017980
Disease:
Glycosuria, Renal 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555496083
rs1555496083
Entrez Id: 6524
Gene Symbol: SLC5A2
SLC5A2
CUI: C0017980
Disease:
Glycosuria, Renal 		T 0.700 CausalMutation CLINVAR
dbSNP: rs200228142
rs200228142
Entrez Id: 6524
Gene Symbol: SLC5A2
SLC5A2
CUI: C0017980
Disease:
Glycosuria, Renal 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs267607067
rs267607067
Entrez Id: 6524
Gene Symbol: SLC5A2
SLC5A2
CUI: C0017980
Disease:
Glycosuria, Renal 		C 0.700 CausalMutation CLINVAR
dbSNP: rs387906682
rs387906682
Entrez Id: 6524;64755
Gene Symbol: SLC5A2;C16orf58
SLC5A2;C16orf58
CUI: C0017980
Disease:
Glycosuria, Renal 		G 0.700 CausalMutation CLINVAR
dbSNP: rs398122801
rs398122801
Entrez Id: 6524
Gene Symbol: SLC5A2
SLC5A2
CUI: C0017980
Disease:
Glycosuria, Renal 		A 0.700 CausalMutation CLINVAR
dbSNP: rs398122802
rs398122802
Entrez Id: 6524
Gene Symbol: SLC5A2
SLC5A2
CUI: C0017980
Disease:
Glycosuria, Renal 		A 0.700 CausalMutation CLINVAR
dbSNP: rs773289713
rs773289713
Entrez Id: 6524
Gene Symbol: SLC5A2
SLC5A2
CUI: C0017980
Disease:
Glycosuria, Renal 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs886037850
rs886037850
Entrez Id: 6524
Gene Symbol: SLC5A2
SLC5A2
CUI: C0017980
Disease:
Glycosuria, Renal 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1306939757
rs1306939757
Entrez Id: 6524
Gene Symbol: SLC5A2
SLC5A2
CUI: C3245525
Disease:
Familial renal glucosuria 		0.010 GeneticVariation BEFREE Clinical and genetic analysis in a family with familial renal glucosuria: Identification of an N101K mutation in the sodium-glucose cotransporter 2 encoded by a solute carrier family 5 member 2 gene. 31584752 2019
dbSNP: rs3116150
rs3116150
Entrez Id: 6524
Gene Symbol: SLC5A2
SLC5A2
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 GeneticVariation BEFREE Polymorphisms rs3813008 and rs3116150 were associated neither with glycemic parameters nor with T2DM. 30988077 2019
dbSNP: rs3813008
rs3813008
Entrez Id: 6524
Gene Symbol: SLC5A2
SLC5A2
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 GeneticVariation BEFREE Polymorphisms rs3813008 and rs3116150 were associated neither with glycemic parameters nor with T2DM. 30988077 2019
dbSNP: rs565909305
rs565909305
Entrez Id: 6524;64755
Gene Symbol: SLC5A2;C16orf58
SLC5A2;C16orf58
CUI: C3245525
Disease:
Familial renal glucosuria 		0.010 GeneticVariation BEFREE The novel compound heterozygous mutation (c.514T>C, p.W172R; c.1540C>T, p.P514S) of the SLC5A2 gene may be responsible for the onset of FRG. 30942416 2019
dbSNP: rs9934336
rs9934336
Entrez Id: 6524
Gene Symbol: SLC5A2
SLC5A2
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 GeneticVariation BEFREE The association between rs9934336 and T2DM was confirmed in a meta-analysis including results from two previous observations which by themselves had failed to show a significant association of the polymorphism with T2DM (OR = 0.86 [0.78-0.95]; <i>P</i> = 0.004). 30988077 2019
dbSNP: rs1441715394
rs1441715394
Entrez Id: 6524
Gene Symbol: SLC5A2
SLC5A2
CUI: C0017980
Disease:
Glycosuria, Renal 		0.010 GeneticVariation BEFREE One novel mutation (V359G) of SLC5A2 in 32 patients with renal glycosuria and one known mutation (R131W) of HNF1A in 28 nonobese patients with renal glycosuria were identified. 28324025 2017
dbSNP: rs766548165
rs766548165
Entrez Id: 6524
Gene Symbol: SLC5A2
SLC5A2
CUI: C0017980
Disease:
Glycosuria, Renal 		0.010 GeneticVariation BEFREE Here we present data on a large pedigree with renal glycosuria due to two mutations (c.300-303+2del and p.A343V) in the SLC5A2 gene. 26735923 2016