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: rs121908991
rs121908991
0.807 0.120 7 151560610 missense variant C/A;T snv
CUI: C0268147
Disease: Glycogen storage disease, type IX
Glycogen storage disease, type IX
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.020 1.000 2 2005 2007