rs137852889, GBE1

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Glycogen Storage Disease Type IV
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
21 1.000 0.080 3 81537080 missense variant T/C snv 0.800 1.000 3 1996 2004
GLYCOGEN STORAGE DISEASE IV, FATAL PERINATAL NEUROMUSCULAR
CUI: C4017117
Disease: GLYCOGEN STORAGE DISEASE IV, FATAL PERINATAL NEUROMUSCULAR
2 1.000 0.080 3 81537080 missense variant T/C snv 0.700 0