ALDOB, aldolase, fructose-bisphosphate B, 229

N. diseases: 80; N. variants: 46
Disease: Hereditary fructose intolerance syndrome ×
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: rs78340951
rs78340951 		1.000 0.080 9 101421899 missense variant G/A;C snv 4.0E-06; 1.2E-04
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 19 1988 2012
dbSNP: rs369586696
rs369586696 		1.000 0.080 9 101421877 missense variant A/G snv 4.0E-06 2.1E-05
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 11 1988 2010
dbSNP: rs1800546
rs1800546 		1.000 0.080 9 101427574 missense variant C/G snv 3.0E-03 3.1E-03
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 16 1983 2017
dbSNP: rs387906225
rs387906225 		1.000 0.080 9 101428485 frameshift variant TGTT/- delins 7.0E-05
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 12 1990 2015
dbSNP: rs1554702433
rs1554702433 		1.000 0.080 9 101425566 missense variant A/G snv
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 11 1988 2010
dbSNP: rs1554702442
rs1554702442 		1.000 0.080 9 101425588 missense variant C/A snv
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 11 1988 2010
dbSNP: rs555935217
rs555935217 		1.000 0.080 9 101424932 missense variant G/A snv 1.2E-05 2.1E-05
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 11 1988 2010
dbSNP: rs764701775
rs764701775 		1.000 0.080 9 101425482 missense variant A/G snv 4.0E-06
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 11 1988 2010
dbSNP: rs781023784
rs781023784 		1.000 0.080 9 101429858 missense variant A/G snv 4.0E-06
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 11 1988 2010
dbSNP: rs76917243
rs76917243 		1.000 0.080 9 101427498 missense variant G/T snv 3.6E-04 3.0E-04
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 10 1990 2015
dbSNP: rs118204428
rs118204428 		1.000 0.080 9 101430878 stop gained G/A snv 4.0E-06
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 7 1994 2010
dbSNP: rs118204429
rs118204429 		1.000 0.080 9 101429901 stop gained G/A;T snv 8.4E-05; 1.2E-05
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 7 1994 2015
dbSNP: rs370793608
rs370793608 		1.000 0.080 9 101426567 stop gained A/C;T snv 7.0E-06
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 7 1993 2012
dbSNP: rs77718928
rs77718928 		1.000 0.080 9 101421891 missense variant G/A;C snv 1.5E-04; 3.2E-05
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 7 1998 2015
dbSNP: rs750026492
rs750026492 		1.000 0.080 9 101429755 splice region variant C/T snv 4.0E-06
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 4 2002 2010
dbSNP: rs145078268
rs145078268 		1.000 0.080 9 101424931 missense variant C/G;T snv 4.0E-06; 2.1E-04
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 2000 2013
dbSNP: rs786204503
rs786204503 		1.000 0.080 9 101425629 splice acceptor variant T/C snv
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 2004 2012
dbSNP: rs1057516534
rs1057516534 		1.000 0.080 9 101430775 splice donor variant C/- delins
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1057516902
rs1057516902 		1.000 0.080 9 101427578 stop gained C/T snv
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2008 2008
dbSNP: rs1554702328
rs1554702328 		1.000 0.080 9 101424901 splice acceptor variant -/A delins
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1554702666
rs1554702666 		1.000 0.080 9 101427643 splice acceptor variant C/T snv
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs181639417
rs181639417 		1.000 0.080 9 101435708 splice donor variant C/G snv
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2010 2010
dbSNP: rs752902486
rs752902486 		1.000 0.080 9 101427500 stop gained G/A;C snv 3.6E-05 2.8E-05
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2006 2006
dbSNP: rs764826805
rs764826805 		1.000 0.080 9 101429754 splice donor variant C/T snv 4.0E-06
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs786204598
rs786204598 		1.000 0.080 9 101429964 splice acceptor variant CCTA/- delins 4.0E-06 2.8E-05
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
Hereditary fructose intolerance syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 1990 1990