Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852889
rs137852889
GBE1
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		C 0.800 CausalMutation CLINVAR

dbSNP: rs137852887
rs137852887
GBE1
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		T 0.800 CausalMutation CLINVAR

dbSNP: rs137852886
rs137852886
GBE1
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		G 0.800 CausalMutation CLINVAR

dbSNP: rs80338671
rs80338671
GBE1
CUI: C1849722
Disease: Polyglucosan Body Disease, Adult Form
Polyglucosan Body Disease, Adult Form 		G 0.720 CausalMutation CLINVAR

dbSNP: rs80338671
rs80338671
GBE1
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		C 0.710 CausalMutation CLINVAR

dbSNP: rs201958741
rs201958741
GBE1
CUI: C1849722
Disease: Polyglucosan Body Disease, Adult Form
Polyglucosan Body Disease, Adult Form 		0.710 GeneticVariation UNIPROT

dbSNP: rs137852888
rs137852888
GBE1
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		A 0.710 CausalMutation CLINVAR

dbSNP: rs869320698
rs869320698
GBE1
CUI: C4017118
Disease: ADULT POLYGLUCOSAN BODY NEUROPATHY
ADULT POLYGLUCOSAN BODY NEUROPATHY 		ACCTGTCATGTAAAAAACA 0.700 CausalMutation CLINVAR

dbSNP: rs80338673
rs80338673
GBE1
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		T 0.700 CausalMutation CLINVAR

dbSNP: rs80338673
rs80338673
GBE1
CUI: C1849722
Disease: Polyglucosan Body Disease, Adult Form
Polyglucosan Body Disease, Adult Form 		0.700 GeneticVariation UNIPROT

dbSNP: rs80338673
rs80338673
GBE1
CUI: C4017118
Disease: ADULT POLYGLUCOSAN BODY NEUROPATHY
ADULT POLYGLUCOSAN BODY NEUROPATHY 		T 0.700 CausalMutation CLINVAR

dbSNP: rs80338673
rs80338673
GBE1
CUI: C4017116
Disease: GLYCOGEN STORAGE DISEASE IV, COMBINED HEPATIC AND MYOPATHIC
GLYCOGEN STORAGE DISEASE IV, COMBINED HEPATIC AND MYOPATHIC 		T 0.700 CausalMutation CLINVAR

dbSNP: rs80338672
rs80338672
GBE1
CUI: C1856301
Disease: GSD IV, Classic Hepatic
GSD IV, Classic Hepatic 		A 0.700 CausalMutation CLINVAR

dbSNP: rs80338672
rs80338672
GBE1
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		A 0.700 CausalMutation CLINVAR

dbSNP: rs80338671
rs80338671
GBE1
CUI: C4017118
Disease: ADULT POLYGLUCOSAN BODY NEUROPATHY
ADULT POLYGLUCOSAN BODY NEUROPATHY 		G 0.700 CausalMutation CLINVAR

dbSNP: rs80338671
rs80338671
GBE1
CUI: C4017114
Disease: GLYCOGEN STORAGE DISEASE IV, NONPROGRESSIVE HEPATIC
GLYCOGEN STORAGE DISEASE IV, NONPROGRESSIVE HEPATIC 		G 0.700 CausalMutation CLINVAR

dbSNP: rs763016962
rs763016962
GBE1
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		A 0.700 CausalMutation CLINVAR

dbSNP: rs397515344
rs397515344
GBE1
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		G 0.700 CausalMutation CLINVAR

dbSNP: rs397515344
rs397515344
GBE1
CUI: C1856304
Disease: GSD IV, Neuromuscular Form, Congenital
GSD IV, Neuromuscular Form, Congenital 		G 0.700 CausalMutation CLINVAR

dbSNP: rs397515343
rs397515343
GBE1
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		T 0.700 CausalMutation CLINVAR

dbSNP: rs397515343
rs397515343
GBE1
CUI: C4017117
Disease: GLYCOGEN STORAGE DISEASE IV, FATAL PERINATAL NEUROMUSCULAR
GLYCOGEN STORAGE DISEASE IV, FATAL PERINATAL NEUROMUSCULAR 		T 0.700 CausalMutation CLINVAR

dbSNP: rs397515342
rs397515342
GBE1
CUI: C1856304
Disease: GSD IV, Neuromuscular Form, Congenital
GSD IV, Neuromuscular Form, Congenital 		T 0.700 CausalMutation CLINVAR

dbSNP: rs369574719
rs369574719
GBE1
CUI: C1849722
Disease: Polyglucosan Body Disease, Adult Form
Polyglucosan Body Disease, Adult Form 		T 0.700 CausalMutation CLINVAR

dbSNP: rs201958741
rs201958741
GBE1
CUI: C4017118
Disease: ADULT POLYGLUCOSAN BODY NEUROPATHY
ADULT POLYGLUCOSAN BODY NEUROPATHY 		T 0.700 CausalMutation CLINVAR

dbSNP: rs192044702
rs192044702
GBE1
CUI: C1849722
Disease: Polyglucosan Body Disease, Adult Form
Polyglucosan Body Disease, Adult Form 		G 0.700 CausalMutation CLINVAR