GYG1, glycogenin 1, 2992

N. diseases: 52; N. variants: 11
Disease: POLYGLUCOSAN BODY MYOPATHY 2 ×
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: rs143137713
rs143137713 		0.925 3 148996462 missense variant G/C snv 1.0E-03 1.1E-03
CUI: C4015452
Disease: POLYGLUCOSAN BODY MYOPATHY 2
POLYGLUCOSAN BODY MYOPATHY 2 		0.800 1.000 2 2014 2017
dbSNP: rs727502871
rs727502871 		1.000 3 149009278 frameshift variant G/- delins
CUI: C4015452
Disease: POLYGLUCOSAN BODY MYOPATHY 2
POLYGLUCOSAN BODY MYOPATHY 2 		0.700 1.000 4 2010 2018
dbSNP: rs200947378
rs200947378 		1.000 3 148994180 missense variant G/A;C snv 8.4E-04; 4.0E-06
CUI: C4015452
Disease: POLYGLUCOSAN BODY MYOPATHY 2
POLYGLUCOSAN BODY MYOPATHY 2 		0.700 1.000 1 2014 2014
dbSNP: rs1559834349
rs1559834349 		0.925 3 148996312 stop gained G/T snv
CUI: C4015452
Disease: POLYGLUCOSAN BODY MYOPATHY 2
POLYGLUCOSAN BODY MYOPATHY 2 		0.700 0
dbSNP: rs370652040
rs370652040 		1.000 3 148994280 splice region variant G/C;T snv 2.0E-04; 1.6E-05
CUI: C4015452
Disease: POLYGLUCOSAN BODY MYOPATHY 2
POLYGLUCOSAN BODY MYOPATHY 2 		0.700 0
dbSNP: rs727502869
rs727502869 		1.000 3 149026850 stop gained C/T snv 2.0E-05 1.4E-05
CUI: C4015452
Disease: POLYGLUCOSAN BODY MYOPATHY 2
POLYGLUCOSAN BODY MYOPATHY 2 		0.700 0
dbSNP: rs727502870
rs727502870 		1.000 3 149024193 stop gained G/A snv
CUI: C4015452
Disease: POLYGLUCOSAN BODY MYOPATHY 2
POLYGLUCOSAN BODY MYOPATHY 2 		0.700 0