Disease: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY ×
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: rs566912235
rs566912235 		1.000 20 427443 missense variant A/G snv 7.0E-06
CUI: C4014605
Disease: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY
POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY 		0.800 0
dbSNP: rs1555787599
rs1555787599 		0.925 0.080 20 427395 missense variant G/T snv
CUI: C4014605
Disease: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY
POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY 		0.700 0
dbSNP: rs587777561
rs587777561 		1.000 20 420904 stop gained C/T snv
CUI: C4014605
Disease: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY
POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY 		0.700 0
dbSNP: rs727503762
rs727503762 		1.000 20 419439 stop gained C/T snv
CUI: C4014605
Disease: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY
POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY 		0.700 0
dbSNP: rs727503763
rs727503763 		1.000 20 409979 frameshift variant CT/- del
CUI: C4014605
Disease: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY
POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY 		0.700 0
dbSNP: rs727503764
rs727503764 		1.000 20 421007 frameshift variant AGTG/- delins
CUI: C4014605
Disease: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY
POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY 		0.700 0
dbSNP: rs727503765
rs727503765 		1.000 20 419702 stop gained G/T snv
CUI: C4014605
Disease: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY
POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY 		0.700 0
dbSNP: rs730880329
rs730880329 		1.000 20 419694 frameshift variant -/GGCG delins
CUI: C4014605
Disease: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY
POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY 		0.700 0
dbSNP: rs730880330
rs730880330 		1.000 20 419671 frameshift variant -/GACGAGG delins 7.0E-06
CUI: C4014605
Disease: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY
POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY 		0.700 0
dbSNP: rs780854072
rs780854072 		1.000 20 427337 stop gained C/T snv 1.2E-05 1.4E-05
CUI: C4014605
Disease: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY
POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY 		0.700 0