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: rs80356490
rs80356490 		1.000 0.080 11 119025299 missense variant C/A snv 7.8E-05 7.7E-05
CUI: C0268146
Disease: Glucose-6-phosphate transport defect
Glucose-6-phosphate transport defect 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 24 1997 2014
dbSNP: rs121908980
rs121908980 		1.000 0.080 11 119025298 missense variant C/T snv
CUI: C0268146
Disease: Glucose-6-phosphate transport defect
Glucose-6-phosphate transport defect 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 20 1997 2011
dbSNP: rs80356492
rs80356492 		1.000 0.080 11 119025215 missense variant C/T snv 5.6E-05 2.1E-05
CUI: C0268146
Disease: Glucose-6-phosphate transport defect
Glucose-6-phosphate transport defect 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 21 1997 2014
dbSNP: rs193302901
rs193302901 		1.000 0.080 11 119025196 missense variant G/C;T snv 4.0E-06; 4.0E-06
CUI: C0268146
Disease: Glucose-6-phosphate transport defect
Glucose-6-phosphate transport defect 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 20 1997 2011
dbSNP: rs80356491
rs80356491 		0.925 0.080 11 119025271 frameshift variant AG/- del 1.7E-04 2.5E-04
CUI: C0268146
Disease: Glucose-6-phosphate transport defect
Glucose-6-phosphate transport defect 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 10 1998 2017
dbSNP: rs80356491
rs80356491 		0.925 0.080 11 119025271 frameshift variant AG/- del 1.7E-04 2.5E-04
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 1998 2000
dbSNP: rs782630676
rs782630676 		1.000 0.080 11 119025190 splice donor variant C/A;G snv 1.2E-05
CUI: C0268146
Disease: Glucose-6-phosphate transport defect
Glucose-6-phosphate transport defect 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 1998 2000
dbSNP: rs121908975
rs121908975 		1.000 0.080 11 119025251 stop gained C/A;T snv 1.2E-05
CUI: C0268146
Disease: Glucose-6-phosphate transport defect
Glucose-6-phosphate transport defect 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs121908979
rs121908979 		1.000 0.080 11 119024957 stop gained G/A;T snv 4.4E-05
CUI: C0268146
Disease: Glucose-6-phosphate transport defect
Glucose-6-phosphate transport defect 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1459811938
rs1459811938 		1.000 0.080 11 119025188 splice donor variant -/A delins 2.1E-05
CUI: C0268146
Disease: Glucose-6-phosphate transport defect
Glucose-6-phosphate transport defect 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1555190559
rs1555190559 		1.000 0.080 11 119025326 splice acceptor variant AGAGCTG/- del
CUI: C0268146
Disease: Glucose-6-phosphate transport defect
Glucose-6-phosphate transport defect 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs193302897
rs193302897 		1.000 0.080 11 119025074 missense variant C/T snv
CUI: C0342749
Disease: GLYCOGEN STORAGE DISEASE Ic
GLYCOGEN STORAGE DISEASE Ic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs782202675
rs782202675 		1.000 0.080 11 119025077 splice acceptor variant C/G;T snv 8.0E-06
CUI: C0268146
Disease: Glucose-6-phosphate transport defect
Glucose-6-phosphate transport defect 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs80356491
rs80356491 		0.925 0.080 11 119025271 frameshift variant AG/- del 1.7E-04 2.5E-04
CUI: C0342749
Disease: GLYCOGEN STORAGE DISEASE Ic
GLYCOGEN STORAGE DISEASE Ic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1326123837
rs1326123837 		0.925 0.040 11 119025310 missense variant C/T snv 7.0E-06
CUI: C0027947
Disease: Neutropenia
Neutropenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2020 2020
dbSNP: rs1326123837
rs1326123837 		0.925 0.040 11 119025310 missense variant C/T snv 7.0E-06
CUI: C0023530
Disease: Leukopenia
Leukopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2020 2020