Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908062
rs121908062
Entrez Id: 1145;2811
Gene Symbol: CHRNE;GP1BA
CHRNE;GP1BA
CUI: C1280798
Disease:
Von Willebrand disease, platelet type 		T 0.820 CausalMutation CLINVAR
dbSNP: rs121908064
rs121908064
Entrez Id: 1145;2811
Gene Symbol: CHRNE;GP1BA
CHRNE;GP1BA
CUI: C1280798
Disease:
Von Willebrand disease, platelet type 		G 0.820 CausalMutation CLINVAR
dbSNP: rs121908065
rs121908065
Entrez Id: 1145;2811
Gene Symbol: CHRNE;GP1BA
CHRNE;GP1BA
CUI: C3277076
Disease:
BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121909510
rs121909510
Entrez Id: 1145;100130311
Gene Symbol: CHRNE;C17orf107
CHRNE;C17orf107
CUI: C4225413
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL 		G 0.800 CausalMutation CLINVAR
dbSNP: rs121909512
rs121909512
Entrez Id: 1145;100130311
Gene Symbol: CHRNE;C17orf107
CHRNE;C17orf107
CUI: C4225369
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121909514
rs121909514
Entrez Id: 1145;100130311
Gene Symbol: CHRNE;C17orf107
CHRNE;C17orf107
CUI: C1837091
Disease:
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121909515
rs121909515
Entrez Id: 1145;100130311
Gene Symbol: CHRNE;C17orf107
CHRNE;C17orf107
CUI: C1837091
Disease:
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121909516
rs121909516
Entrez Id: 1145;100130311
Gene Symbol: CHRNE;C17orf107
CHRNE;C17orf107
CUI: C4225369
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121909517
rs121909517
Entrez Id: 1145;100130311
Gene Symbol: CHRNE;C17orf107
CHRNE;C17orf107
CUI: C4225369
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL 		G 0.800 CausalMutation CLINVAR
dbSNP: rs193919341
rs193919341
Entrez Id: 1145;100130311
Gene Symbol: CHRNE;C17orf107
CHRNE;C17orf107
CUI: C4225369
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL 		G 0.800 CausalMutation CLINVAR
dbSNP: rs28999110
rs28999110
Entrez Id: 1145;100130311
Gene Symbol: CHRNE;C17orf107
CHRNE;C17orf107
CUI: C4225413
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1156634884
rs1156634884
Entrez Id: 1145;100130311
Gene Symbol: CHRNE;C17orf107
CHRNE;C17orf107
CUI: C0751882
Disease:
Myasthenic Syndromes, Congenital 		CG 0.700 CausalMutation CLINVAR
dbSNP: rs121908061
rs121908061
Entrez Id: 1145;2811
Gene Symbol: CHRNE;GP1BA
CHRNE;GP1BA
CUI: C3278148
Disease:
BERNARD-SOULIER SYNDROME, TYPE A1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121908063
rs121908063
Entrez Id: 1145;2811
Gene Symbol: CHRNE;GP1BA
CHRNE;GP1BA
CUI: C3277076
Disease:
BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121908065
rs121908065
Entrez Id: 1145;2811
Gene Symbol: CHRNE;GP1BA
CHRNE;GP1BA
CUI: C3278148
Disease:
BERNARD-SOULIER SYNDROME, TYPE A1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121909513
rs121909513
Entrez Id: 1145;100130311
Gene Symbol: CHRNE;C17orf107
CHRNE;C17orf107
CUI: C1837091
Disease:
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121909516
rs121909516
Entrez Id: 1145;100130311
Gene Symbol: CHRNE;C17orf107
CHRNE;C17orf107
CUI: C1837091
Disease:
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1394634674
rs1394634674
Entrez Id: 1145;2811
Gene Symbol: CHRNE;GP1BA
CHRNE;GP1BA
CUI: C3278148
Disease:
BERNARD-SOULIER SYNDROME, TYPE A1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1423995073
rs1423995073
Entrez Id: 1145;100130311
Gene Symbol: CHRNE;C17orf107
CHRNE;C17orf107
CUI: C4225413
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL 		CTCAAACA 0.700 CausalMutation CLINVAR
dbSNP: rs1430654625
rs1430654625
Entrez Id: 1145;100130311
Gene Symbol: CHRNE;C17orf107
CHRNE;C17orf107
CUI: C1837091
Disease:
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs144169073
rs144169073
Entrez Id: 1145;100130311
Gene Symbol: CHRNE;C17orf107
CHRNE;C17orf107
CUI: C1837091
Disease:
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1555546315
rs1555546315
Entrez Id: 1145;100130311
Gene Symbol: CHRNE;C17orf107
CHRNE;C17orf107
CUI: C4225413
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL 		AGGCGGCCCGGGGGGCCTCGGGC 0.700 CausalMutation CLINVAR
dbSNP: rs1555546765
rs1555546765
Entrez Id: 1145;100130311
Gene Symbol: CHRNE;C17orf107
CHRNE;C17orf107
CUI: C4225413
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555547003
rs1555547003
Entrez Id: 1145;100130311
Gene Symbol: CHRNE;C17orf107
CHRNE;C17orf107
CUI: C4225413
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1555549041
rs1555549041
Entrez Id: 1145;2811
Gene Symbol: CHRNE;GP1BA
CHRNE;GP1BA
CUI: C0005129
Disease:
Bernard-Soulier Syndrome 		C 0.700 CausalMutation CLINVAR