Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1306939757
rs1306939757
SLC5A2
1.000 0.160 16 31484923 missense variant T/A snv 7.0E-06
CUI: C3245525
Disease: Familial renal glucosuria
Familial renal glucosuria 		0.010 1.000 1 2019 2019
dbSNP: rs1441715394
rs1441715394
SLC5A2
1.000 0.160 16 31488437 missense variant T/G snv 7.0E-06
CUI: C0017980
Disease: Glycosuria, Renal
Glycosuria, Renal 		0.010 1.000 1 2017 2017
dbSNP: rs3116150
rs3116150
SLC5A2
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 		0.010 1.000 1 2019 2019
dbSNP: rs3813008
rs3813008
SLC5A2
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 		0.010 1.000 1 2019 2019
dbSNP: rs565909305
rs565909305
SLC5A2 ; C16orf58
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 		0.010 1.000 1 2019 2019
dbSNP: rs766548165
rs766548165
SLC5A2
1.000 0.160 16 31488392 missense variant C/T snv 4.1E-05 7.0E-06
CUI: C0017980
Disease: Glycosuria, Renal
Glycosuria, Renal 		0.010 1.000 1 2016 2016
dbSNP: rs9934336
rs9934336
SLC5A2
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 		0.010 < 0.001 1 2019 2019