RPE, ribulose-5-phosphate-3-epimerase, 6120

N. diseases: 90; N. variants: 4
Disease: Glycogen storage disease type II ×
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: rs1345823874
rs1345823874 		0.882 0.160 2 210018157 frameshift variant ATCATTAAGTTTCACGGCCTTGGAAG/- delins 7.4E-06
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs768275592
rs768275592 		0.882 0.160 2 210018164 missense variant A/T snv
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018