GBE1, 1,4-alpha-glucan branching enzyme 1, 2632

N. diseases: 11; N. variants: 25
Disease: ADULT POLYGLUCOSAN BODY NEUROPATHY ×
Source: CLINVAR ×
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: rs137852886
rs137852886 		0.925 0.080 3 81648876 missense variant A/G snv 4.4E-06 2.1E-05
CUI: C4017118
Disease: ADULT POLYGLUCOSAN BODY NEUROPATHY
ADULT POLYGLUCOSAN BODY NEUROPATHY 		0.700 0
dbSNP: rs201958741
rs201958741 		0.851 0.120 3 81577999 missense variant C/T snv 3.3E-05 4.9E-05
CUI: C4017118
Disease: ADULT POLYGLUCOSAN BODY NEUROPATHY
ADULT POLYGLUCOSAN BODY NEUROPATHY 		0.700 0
dbSNP: rs80338671
rs80338671 		0.851 0.120 3 81642787 missense variant T/C;G snv 4.5E-04; 3.2E-04
CUI: C4017118
Disease: ADULT POLYGLUCOSAN BODY NEUROPATHY
ADULT POLYGLUCOSAN BODY NEUROPATHY 		0.700 0
dbSNP: rs80338673
rs80338673 		0.882 0.120 3 81577972 missense variant C/T snv 1.6E-05
CUI: C4017118
Disease: ADULT POLYGLUCOSAN BODY NEUROPATHY
ADULT POLYGLUCOSAN BODY NEUROPATHY 		0.700 0
dbSNP: rs869320698
rs869320698 		1.000 3 81493813 intron variant CCACCACAC/ACCTGTCATGTAAAAAACA delins
CUI: C4017118
Disease: ADULT POLYGLUCOSAN BODY NEUROPATHY
ADULT POLYGLUCOSAN BODY NEUROPATHY 		0.700 0