SLC2A2, solute carrier family 2 member 2, 6514

N. diseases: 20; N. variants: 28
Disease: Fanconi-Bickel Syndrome ×
Source: CURATED ×
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: 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: 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: 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: 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
dbSNP: rs121909745
rs121909745 		1.000 0.120 3 170998308 stop gained C/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 0.700 0
dbSNP: rs121909746
rs121909746 		1.000 0.120 3 171005389 stop gained G/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: rs1553784980
rs1553784980 		1.000 0.120 3 170998208 frameshift variant CA/- 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 0
dbSNP: rs1553785033
rs1553785033 		0.882 0.120 3 170998321 missense variant C/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 0.700 0
dbSNP: rs1553785722
rs1553785722 		1.000 0.120 3 171002600 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 0
dbSNP: rs1553786361
rs1553786361 		1.000 0.120 3 171006106 splice acceptor variant 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 0.700 0
dbSNP: rs1560035336
rs1560035336 		1.000 0.120 3 171006007 frameshift variant AAGA/- 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 0
dbSNP: rs769888108
rs769888108 		1.000 0.120 3 171014601 frameshift variant G/- delins 7.7E-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 0