Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886039768
rs886039768
SLC5A7
0.800 GeneticVariation UNIPROT Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea. 27569547

2016
dbSNP: rs147656110
rs147656110
SLC5A7
A 0.800 CausalMutation CLINVAR

dbSNP: rs147656110
rs147656110
SLC5A7
0.800 GeneticVariation UNIPROT

dbSNP: rs886039768
rs886039768
SLC5A7
G 0.800 CausalMutation CLINVAR

dbSNP: rs886039765
rs886039765
SLC5A7
0.700 GeneticVariation UNIPROT Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea. 27569547

2016
dbSNP: rs886039766
rs886039766
SLC5A7
0.700 GeneticVariation UNIPROT Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea. 27569547

2016
dbSNP: rs1331713195
rs1331713195
SLC5A7
0.700 GeneticVariation UNIPROT

dbSNP: rs375397889
rs375397889
SLC5A7
0.700 GeneticVariation UNIPROT

dbSNP: rs886039767
rs886039767
SLC5A7
G 0.700 GeneticVariation CLINVAR

dbSNP: rs886039767
rs886039767
SLC5A7
G 0.700 CausalMutation CLINVAR