rs80338673, GBE1

N. diseases: 4
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.
ADULT POLYGLUCOSAN BODY NEUROPATHY
CUI: C4017118
Disease: ADULT POLYGLUCOSAN BODY NEUROPATHY
5 0.882 0.120 3 81577972 missense variant C/T snv 1.6E-05 0.700 0
GLYCOGEN STORAGE DISEASE IV, COMBINED HEPATIC AND MYOPATHIC
CUI: C4017116
Disease: GLYCOGEN STORAGE DISEASE IV, COMBINED HEPATIC AND MYOPATHIC
1 0.882 0.120 3 81577972 missense variant C/T snv 1.6E-05 0.700 0
Glycogen Storage Disease Type IV
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
21 0.882 0.120 3 81577972 missense variant C/T snv 1.6E-05 0.700 0
Polyglucosan Body Disease, Adult Form
CUI: C1849722
Disease: Polyglucosan Body Disease, Adult Form
7 0.882 0.120 3 81577972 missense variant C/T snv 1.6E-05 0.700 0