rs398124208, 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 64753556 missense variant C/G;T snv 4.5E-06; 1.8E-05 0.700 1.000 5 2003 2012