rs137852887, 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 0.925 0.080 3 81646403 missense variant A/T snv 1.4E-05 0.800 1.000 3 1996 2004
GSD IV, Classic Hepatic
CUI: C1856301
Disease: GSD IV, Classic Hepatic
8 0.925 0.080 3 81646403 missense variant A/T snv 1.4E-05 0.700 0