SLC5A2, solute carrier family 5 member 2, 6524

N. diseases: 214; N. variants: 20
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: rs61742739
rs61742739 		1.000 0.160 16 31490477 missense variant A/G snv 5.6E-03 5.2E-03
CUI: C0017980
Disease: Glycosuria, Renal
Glycosuria, Renal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 1 2004 2004
dbSNP: rs200228142
rs200228142 		1.000 0.160 16 31487764 splice region variant G/A snv 3.1E-04 1.5E-04
CUI: C0017980
Disease: Glycosuria, Renal
Glycosuria, Renal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 2 2003 2008
dbSNP: rs141627694
rs141627694 		16 31488637 missense variant T/C snv 6.6E-05 1.0E-04
CUI: C0017979
Disease: Glycosuria
Glycosuria 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2019 2019
dbSNP: rs121918621
rs121918621 		1.000 0.160 16 31488919 stop gained G/A snv
CUI: C0017980
Disease: Glycosuria, Renal
Glycosuria, Renal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1309307492
rs1309307492 		1.000 0.160 16 31489124 missense variant G/A snv
CUI: C0017980
Disease: Glycosuria, Renal
Glycosuria, Renal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1378076282
rs1378076282 		1.000 0.160 16 31485841 missense variant G/A snv 4.0E-06
CUI: C0017980
Disease: Glycosuria, Renal
Glycosuria, Renal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1555496083
rs1555496083 		1.000 0.160 16 31488889 frameshift variant G/- delins
CUI: C0017980
Disease: Glycosuria, Renal
Glycosuria, Renal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs267607067
rs267607067 		1.000 0.160 16 31486201 frameshift variant A/- del 8.0E-06 7.7E-05
CUI: C0017980
Disease: Glycosuria, Renal
Glycosuria, Renal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs387906682
rs387906682 		1.000 0.160 16 31489034 missense variant C/G snv
CUI: C0017980
Disease: Glycosuria, Renal
Glycosuria, Renal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs398122801
rs398122801 		1.000 0.160 16 31484657 intron variant C/A;G;T snv 1.2E-05; 3.7E-05
CUI: C0017980
Disease: Glycosuria, Renal
Glycosuria, Renal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs398122802
rs398122802 		1.000 0.160 16 31484914 missense variant C/A;G;T snv 1.2E-05; 4.0E-06; 8.0E-06
CUI: C0017980
Disease: Glycosuria, Renal
Glycosuria, Renal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs773289713
rs773289713 		1.000 0.160 16 31488944 missense variant G/A;T snv 1.2E-05 7.0E-06
CUI: C0017980
Disease: Glycosuria, Renal
Glycosuria, Renal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs886037850
rs886037850 		1.000 0.160 16 31484885 missense variant G/A snv 8.0E-06
CUI: C0017980
Disease: Glycosuria, Renal
Glycosuria, Renal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1306939757
rs1306939757 		1.000 0.160 16 31484923 missense variant T/A snv 7.0E-06
CUI: C3245525
Disease: Familial renal glucosuria
Familial renal glucosuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1441715394
rs1441715394 		1.000 0.160 16 31488437 missense variant T/G snv 7.0E-06
CUI: C0017980
Disease: Glycosuria, Renal
Glycosuria, Renal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs3116150
rs3116150 		1.000 0.080 16 31486700 intron variant G/A snv 0.18
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs3813008
rs3813008 		1.000 0.080 16 31486560 intron variant G/A;C snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs565909305
rs565909305 		1.000 0.160 16 31489213 missense variant C/T snv 9.7E-05 3.5E-05
CUI: C3245525
Disease: Familial renal glucosuria
Familial renal glucosuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs766548165
rs766548165 		1.000 0.160 16 31488392 missense variant C/T snv 4.1E-05 7.0E-06
CUI: C0017980
Disease: Glycosuria, Renal
Glycosuria, Renal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs9934336
rs9934336 		1.000 0.080 16 31484552 intron variant G/A snv 0.24
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 < 0.001 1 2019 2019