Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137852886
rs137852886
GBE1
0.925 0.080 3 81648876 missense variant A/G snv 4.4E-06 2.1E-05
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		0.800 1.000 3 1996 2015
dbSNP: rs137852887
rs137852887
GBE1
0.925 0.080 3 81646403 missense variant A/T snv 1.4E-05
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		0.800 1.000 3 1996 2004
dbSNP: rs137852889
rs137852889
GBE1
1.000 0.080 3 81537080 missense variant T/C snv
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		0.800 1.000 3 1996 2004
dbSNP: rs201958741
rs201958741
GBE1
0.851 0.120 3 81577999 missense variant C/T snv 3.3E-05 4.9E-05
CUI: C1849722
Disease: Polyglucosan Body Disease, Adult Form
Polyglucosan Body Disease, Adult Form 		0.710 1.000 0 2003 2003
dbSNP: rs137852891
rs137852891
GBE1
1.000 0.080 3 81535246 missense variant T/C snv 4.0E-06 1.4E-05
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		0.700 1.000 3 1996 2004
dbSNP: rs80338673
rs80338673
GBE1
0.882 0.120 3 81577972 missense variant C/T snv 1.6E-05
CUI: C1849722
Disease: Polyglucosan Body Disease, Adult Form
Polyglucosan Body Disease, Adult Form 		0.700 0