SLC2A2, solute carrier family 2 member 2, 6514

N. diseases: 123; N. variants: 32
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: rs11920090
rs11920090 		1.000 0.040 3 170999732 intron variant T/A snv 0.20
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.800 1.000 4 2010 2015
dbSNP: rs121909744
rs121909744 		1.000 0.120 3 170998317 missense variant G/A;C snv 1.2E-05
CUI: C3495427
Disease: Fanconi-Bickel Syndrome
Fanconi-Bickel Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 2 1999 2000
dbSNP: rs121909747
rs121909747 		0.925 0.160 3 170999069 missense variant A/C;G snv
CUI: C3495427
Disease: Fanconi-Bickel Syndrome
Fanconi-Bickel Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 2 1999 2000
dbSNP: rs28928874
rs28928874 		0.925 0.160 3 170998299 missense variant A/T snv
CUI: C3495427
Disease: Fanconi-Bickel Syndrome
Fanconi-Bickel Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 2 1999 2000
dbSNP: rs10513686
rs10513686 		3 171007753 intron variant G/A snv 0.21
CUI: C1278049
Disease: Serum gamma-glutamyl transferase measurement
Serum gamma-glutamyl transferase measurement 		0.800 1.000 1 2011 2011
dbSNP: rs11920090
rs11920090 		1.000 0.040 3 170999732 intron variant T/A snv 0.20
CUI: C1305855
Disease: Body mass index
Body mass index 		0.800 1.000 1 2012 2012
dbSNP: rs8192675
rs8192675 		0.925 0.080 3 171007094 intron variant T/C snv 0.42
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.710 1.000 3 2016 2019
dbSNP: rs121909743
rs121909743 		1.000 0.120 3 171005347 stop gained G/A snv 4.0E-06; 4.0E-06 3.5E-05
CUI: C3495427
Disease: Fanconi-Bickel Syndrome
Fanconi-Bickel Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 4 2002 2016
dbSNP: rs11720145
rs11720145 		3 171021874 intron variant G/A snv 0.21
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2018 2018
dbSNP: rs11920090
rs11920090 		1.000 0.040 3 170999732 intron variant T/A snv 0.20
CUI: C1261430
Disease: Fasting blood sugar result
Fasting blood sugar result 		0.700 1.000 1 2012 2012
dbSNP: rs11924032
rs11924032 		3 171017310 intron variant G/A snv 0.29
CUI: C0337438
Disease: Glucose measurement
Glucose measurement 		0.700 1.000 1 2018 2018
dbSNP: rs11924032
rs11924032 		3 171017310 intron variant G/A snv 0.29
CUI: C0495706
Disease: elevated blood glucose level
elevated blood glucose level 		0.700 1.000 1 2018 2018
dbSNP: rs11924032
rs11924032 		3 171017310 intron variant G/A snv 0.29
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs1560033414
rs1560033414 		1.000 0.120 3 171002673 frameshift variant -/A delins
CUI: C3495427
Disease: Fanconi-Bickel Syndrome
Fanconi-Bickel Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2015 2015
dbSNP: rs3138708
rs3138708 		3 171009914 intron variant T/G snv 3.1E-02
CUI: C1261430
Disease: Fasting blood sugar result
Fasting blood sugar result 		0.700 1.000 1 2012 2012
dbSNP: rs3138708
rs3138708 		3 171009914 intron variant T/G snv 3.1E-02
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.700 1.000 1 2012 2012
dbSNP: rs5394
rs5394 		3 171027104 intron variant G/A snv 0.15
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.700 1.000 1 2012 2012
dbSNP: rs5394
rs5394 		3 171027104 intron variant G/A snv 0.15
CUI: C1261430
Disease: Fasting blood sugar result
Fasting blood sugar result 		0.700 1.000 1 2012 2012
dbSNP: rs61791109
rs61791109 		3 171016588 intron variant T/C snv 0.38
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs66733022
rs66733022 		3 171003442 intron variant G/C;T snv
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs7356034
rs7356034 		3 171014810 intron variant G/A snv 0.35
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs8192675
rs8192675 		0.925 0.080 3 171007094 intron variant T/C snv 0.42
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.700 1.000 1 2017 2017
dbSNP: rs9873618
rs9873618 		3 171015287 intron variant G/A snv 0.36
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.700 1.000 1 2017 2017
dbSNP: rs1114167428
rs1114167428 		1.000 0.120 3 171006093 stop gained C/A snv
CUI: C3495427
Disease: Fanconi-Bickel Syndrome
Fanconi-Bickel Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs121909742
rs121909742 		1.000 0.120 3 170999142 stop gained G/A;T snv 8.0E-06; 4.0E-06
CUI: C3495427
Disease: Fanconi-Bickel Syndrome
Fanconi-Bickel Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0