SYT1, synaptotagmin 1, 6857

N. diseases: 460; N. variants: 15
Disease: BAKER-GORDON SYNDROME ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1135402761
rs1135402761
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C4748715
Disease:
BAKER-GORDON SYNDROME 		C 0.800 GeneticVariation CLINVAR SYT1-associated neurodevelopmental disorder: a case series. 30107533 2018
dbSNP: rs1135402761
rs1135402761
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C4748715
Disease:
BAKER-GORDON SYNDROME 		C 0.800 GeneticVariation CLINVAR Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling. 25705886 2015
dbSNP: rs1135402761
rs1135402761
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C4748715
Disease:
BAKER-GORDON SYNDROME 		C 0.800 CausalMutation CLINVAR
dbSNP: rs1135402761
rs1135402761
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C4748715
Disease:
BAKER-GORDON SYNDROME 		0.800 GeneticVariation UNIPROT