GYG1, glycogenin 1, 2992

N. diseases: 52; N. variants: 11
Disease: GLYCOGEN STORAGE DISEASE XV ×
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: rs267606858
rs267606858 		1.000 3 148996406 missense variant C/A;G;T snv 8.0E-06; 1.2E-05
CUI: C3150754
Disease: GLYCOGEN STORAGE DISEASE XV
GLYCOGEN STORAGE DISEASE XV 		0.800 1.000 2 2010 2011
dbSNP: rs143137713
rs143137713 		0.925 3 148996462 missense variant G/C snv 1.0E-03 1.1E-03
CUI: C3150754
Disease: GLYCOGEN STORAGE DISEASE XV
GLYCOGEN STORAGE DISEASE XV 		0.700 1.000 2 2014 2017
dbSNP: rs1559834349
rs1559834349 		0.925 3 148996312 stop gained G/T snv
CUI: C3150754
Disease: GLYCOGEN STORAGE DISEASE XV
GLYCOGEN STORAGE DISEASE XV 		0.700 0