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: rs137853588
rs137853588 		1.000 0.080 16 30756191 missense variant G/A snv
CUI: C2751643
Disease: Glycogen Storage Disease IXC
Glycogen Storage Disease IXC 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 3 1996 2003
dbSNP: rs137853589
rs137853589 		1.000 0.080 16 30751594 missense variant T/A snv
CUI: C2751643
Disease: Glycogen Storage Disease IXC
Glycogen Storage Disease IXC 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 3 1996 2003
dbSNP: rs752961445
rs752961445 		1.000 0.080 16 30753470 missense variant G/A snv 8.0E-06 1.4E-05
CUI: C2751643
Disease: Glycogen Storage Disease IXC
Glycogen Storage Disease IXC 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2003 2003
dbSNP: rs1270523244
rs1270523244 		1.000 0.080 16 30753554 stop gained C/T snv 4.0E-06 1.4E-05
CUI: C2751643
Disease: Glycogen Storage Disease IXC
Glycogen Storage Disease IXC 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs137853590
rs137853590 		0.882 0.160 16 30751140 stop gained C/T snv 4.0E-06
CUI: C2751643
Disease: Glycogen Storage Disease IXC
Glycogen Storage Disease IXC 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs137853591
rs137853591 		1.000 0.080 16 30753434 missense variant C/T snv 7.0E-06
CUI: C2751643
Disease: Glycogen Storage Disease IXC
Glycogen Storage Disease IXC 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs137853592
rs137853592 		1.000 0.080 16 30756396 missense variant T/G snv
CUI: C2751643
Disease: Glycogen Storage Disease IXC
Glycogen Storage Disease IXC 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1555467052
rs1555467052 		1.000 0.080 16 30751593 frameshift variant GT/- delins
CUI: C2751643
Disease: Glycogen Storage Disease IXC
Glycogen Storage Disease IXC 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1555467557
rs1555467557 		1.000 0.080 16 30756390 stop gained TC/AA mnv
CUI: C2751643
Disease: Glycogen Storage Disease IXC
Glycogen Storage Disease IXC 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1567260747
rs1567260747 		1.000 0.080 16 30751259 frameshift variant G/- delins
CUI: C2751643
Disease: Glycogen Storage Disease IXC
Glycogen Storage Disease IXC 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs572115942
rs572115942 		0.925 0.240 16 30756714 missense variant G/A snv 8.0E-05 7.7E-05
CUI: C1855790
Disease: Hepatic glycogen storage
Hepatic glycogen storage 		0.700 0
dbSNP: rs572115942
rs572115942 		0.925 0.240 16 30756714 missense variant G/A snv 8.0E-05 7.7E-05
CUI: C0221005
Disease: Mauriac's syndrome
Mauriac's syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs572115942
rs572115942 		0.925 0.240 16 30756714 missense variant G/A snv 8.0E-05 7.7E-05
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		Endocrine System Diseases 0.700 0
dbSNP: rs572115942
rs572115942 		0.925 0.240 16 30756714 missense variant G/A snv 8.0E-05 7.7E-05
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs572115942
rs572115942 		0.925 0.240 16 30756714 missense variant G/A snv 8.0E-05 7.7E-05
CUI: C0853697
Disease: Neutrophil count decreased
Neutrophil count decreased 		0.700 0
dbSNP: rs572115942
rs572115942 		0.925 0.240 16 30756714 missense variant G/A snv 8.0E-05 7.7E-05
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 0
dbSNP: rs572115942
rs572115942 		0.925 0.240 16 30756714 missense variant G/A snv 8.0E-05 7.7E-05
CUI: C0878787
Disease: Growth failure
Growth failure 		0.700 0
dbSNP: rs767427889
rs767427889 		1.000 0.080 16 30756268 missense variant G/A snv 2.8E-05 1.4E-05
CUI: C2751643
Disease: Glycogen Storage Disease IXC
Glycogen Storage Disease IXC 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs137853590
rs137853590 		0.882 0.160 16 30751140 stop gained C/T snv 4.0E-06
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 1998 1998
dbSNP: rs137853590
rs137853590 		0.882 0.160 16 30751140 stop gained C/T snv 4.0E-06
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 1998 1998