Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517665
rs1057517665
CHAT ; SLC18A3
CUI: C4310654
Disease: MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC 		0.800 GeneticVariation UNIPROT

dbSNP: rs1057517665
rs1057517665
CHAT ; SLC18A3
CUI: C4310654
Disease: MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC 		C 0.800 CausalMutation CLINVAR

dbSNP: rs1057517666
rs1057517666
CHAT ; SLC18A3
CUI: C4310654
Disease: MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC 		0.800 GeneticVariation UNIPROT

dbSNP: rs1057517666
rs1057517666
CHAT ; SLC18A3
CUI: C4310654
Disease: MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC 		C 0.800 CausalMutation CLINVAR

dbSNP: rs733722
rs733722
CHAT ; SLC18A3
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 GeneticVariation BEFREE After correction for multiple testing, we found one SNP, rs733722, in a promoter region of CHAT, is associated with response of AD patients to cholinesterase inhibitors (P = 0.03) and accounts for 6% of the variance in response to AChE inhibitors. 16424819

2006