Disease: Glycogen Storage Disease IXB ×
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: rs371296953
rs371296953 		1.000 0.080 16 47593521 stop gained G/A;T snv 6.4E-05
CUI: C0543514
Disease: Glycogen Storage Disease IXB
Glycogen Storage Disease IXB 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2012 2015
dbSNP: rs121918022
rs121918022 		1.000 0.080 16 47503037 missense variant G/C snv 4.0E-05 7.0E-06
CUI: C0543514
Disease: Glycogen Storage Disease IXB
Glycogen Storage Disease IXB 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 1997 1997
dbSNP: rs34667348
rs34667348 		0.925 0.080 16 47650919 stop gained C/A;T snv 2.8E-03; 9.6E-05
CUI: C0543514
Disease: Glycogen Storage Disease IXB
Glycogen Storage Disease IXB 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 1997 1997
dbSNP: rs121918021
rs121918021 		1.000 0.080 16 47596425 stop gained T/A;G snv 6.0E-05
CUI: C0543514
Disease: Glycogen Storage Disease IXB
Glycogen Storage Disease IXB 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs797044442
rs797044442 		1.000 0.080 16 47502989 splice acceptor variant A/G snv 1.2E-05 7.0E-06
CUI: C0543514
Disease: Glycogen Storage Disease IXB
Glycogen Storage Disease IXB 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0