Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137852889
rs137852889
GBE1
1.000 0.080 3 81537080 missense variant T/C snv
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		0.800 1.000 3 1996 2004
dbSNP: rs137852889
rs137852889
GBE1
1.000 0.080 3 81537080 missense variant T/C snv
CUI: C4017117
Disease: GLYCOGEN STORAGE DISEASE IV, FATAL PERINATAL NEUROMUSCULAR
GLYCOGEN STORAGE DISEASE IV, FATAL PERINATAL NEUROMUSCULAR 		0.700 0