PYGB, glycogen phosphorylase B, 5834

N. diseases: 15; N. variants: 2
Disease: Short stature ×
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: rs201805961
rs201805961 		20 25292483 missense variant A/G snv 2.4E-05 2.1E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0