PYGL, glycogen phosphorylase L, 5836

N. diseases: 32; N. variants: 22
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs17123039
rs17123039
14 50865617 non coding transcript exon variant T/G snv 0.35
CUI: C0337443
Disease: Sodium measurement
Sodium measurement
0.700 1.000 1 2019 2019