rs767095759, PFKM

N. diseases: 2
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
CUI: C0017919
Disease: Glycogen Storage Disease
8 1.000 0.160 12 48145039 frameshift variant C/- delins 9.5E-05 4.9E-05 0.700 1.000 3 1994 1997
Glycogen Storage Disease Type VII
CUI: C0017926
Disease: Glycogen Storage Disease Type VII
9 1.000 0.160 12 48145039 frameshift variant C/- delins 9.5E-05 4.9E-05 0.700 1.000 2 1994 1996