Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909512
rs121909512
CHRNE ; C17orf107
0.800 GeneticVariation UNIPROT Highly fatal fast-channel syndrome caused by AChR ε subunit mutation at the agonist binding site. 22592360

2012
dbSNP: rs121909516
rs121909516
CHRNE ; C17orf107
0.800 GeneticVariation UNIPROT Highly fatal fast-channel syndrome caused by AChR ε subunit mutation at the agonist binding site. 22592360

2012
dbSNP: rs121909517
rs121909517
CHRNE ; C17orf107
0.800 GeneticVariation UNIPROT Highly fatal fast-channel syndrome caused by AChR ε subunit mutation at the agonist binding site. 22592360

2012
dbSNP: rs193919341
rs193919341
CHRNE ; C17orf107
0.800 GeneticVariation UNIPROT Highly fatal fast-channel syndrome caused by AChR ε subunit mutation at the agonist binding site. 22592360

2012
dbSNP: rs121909512
rs121909512
CHRNE ; C17orf107
0.800 GeneticVariation UNIPROT Fundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndrome. 10962020

2000
dbSNP: rs121909516
rs121909516
CHRNE ; C17orf107
0.800 GeneticVariation UNIPROT Fundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndrome. 10962020

2000
dbSNP: rs121909517
rs121909517
CHRNE ; C17orf107
0.800 GeneticVariation UNIPROT Fundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndrome. 10962020

2000
dbSNP: rs193919341
rs193919341
CHRNE ; C17orf107
0.800 GeneticVariation UNIPROT Fundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndrome. 10962020

2000
dbSNP: rs121909512
rs121909512
CHRNE ; C17orf107
0.800 GeneticVariation UNIPROT Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit. 8755487

1996
dbSNP: rs121909516
rs121909516
CHRNE ; C17orf107
0.800 GeneticVariation UNIPROT Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit. 8755487

1996
dbSNP: rs121909517
rs121909517
CHRNE ; C17orf107
0.800 GeneticVariation UNIPROT Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit. 8755487

1996
dbSNP: rs193919341
rs193919341
CHRNE ; C17orf107
0.800 GeneticVariation UNIPROT Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit. 8755487

1996
dbSNP: rs121909512
rs121909512
CHRNE ; C17orf107
A 0.800 CausalMutation CLINVAR

dbSNP: rs121909516
rs121909516
CHRNE ; C17orf107
A 0.800 CausalMutation CLINVAR

dbSNP: rs121909517
rs121909517
CHRNE ; C17orf107
G 0.800 CausalMutation CLINVAR

dbSNP: rs193919341
rs193919341
CHRNE ; C17orf107
G 0.800 CausalMutation CLINVAR

dbSNP: rs372635387
rs372635387
CHRNE ; C17orf107
0.700 GeneticVariation UNIPROT Highly fatal fast-channel syndrome caused by AChR ε subunit mutation at the agonist binding site. 22592360

2012
dbSNP: rs372635387
rs372635387
CHRNE ; C17orf107
0.700 GeneticVariation UNIPROT Fundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndrome. 10962020

2000
dbSNP: rs372635387
rs372635387
CHRNE ; C17orf107
0.700 GeneticVariation UNIPROT Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit. 8755487

1996
dbSNP: rs753828284
rs753828284
CHRNE ; C17orf107
G 0.700 CausalMutation CLINVAR