rs755117847, PYGM

N. diseases: 1
Source: CURATED ×
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 V
CUI: C0017924
Disease: Glycogen Storage Disease Type V
70 1.000 0.080 11 64759820 frameshift variant CA/- del 7.0E-06 0.700 1.000 5 2005 2009